SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs751032 | snp | C/T | 0.205417 | 0.245993 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285777 | ACAGGGAAGTGTCCC[C/T]GCGGGAGGCCCTGGC | 326 |
rs760426 | snp | A/G | 0.318656 | 0.240388 | intron-variant | AIRE | GRCh38.p7 | 21:44295931 | ATTCCACAGGGTTCA[A/G]TGTAATATGGTCTCC | 326 |
rs760427 | snp | A/G | 0.266 | 0.249487 | intron-variant | AIRE | GRCh38.p7 | 21:44296108 | GTGGGACTCCTTGCT[A/G]GTTCCCTGAGCTCCC | 326 |
rs878080 | snp | A/T | 0.417359 | 0.185718 | intron-variant | AIRE | GRCh38.p7 | 21:44288138 | CCAGCACACGCACAC[A/T]TGGGTGCACACACGA | 326 |
rs878081 | snp | C/T | 0.329464 | 0.237035 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44288394 | TGTGGCCATGTCCTC[C/T]GGGGACGTCCCGGGA | 326 |
rs933150 | snp | A/G | 0.370162 | 0.219229 | intron-variant | AIRE | GRCh38.p7 | 21:44292705 | TCTGCTGCTGTGAGG[A/G]TAGTAGGTCTACTGT | 326 |
rs941405 | snp | C/G | 0.482683 | 0.0914256 | intron-variant | AIRE | GRCh38.p7 | 21:44290527 | GGCCCTGGCACTTAG[C/G]AGTGACAGGAGCCAG | 326 |
rs1003853 | snp | C/T | 0.297636 | 0.24542 | intron-variant | AIRE | GRCh38.p7 | 21:44288965 | TGGTGGCAGACCCAC[C/T]GTGCCATCGGGGCAT | 326 |
rs1003854 | snp | C/T | 0.318656 | 0.240388 | intron-variant | AIRE | GRCh38.p7 | 21:44290224 | TTAATAGACAGTATT[C/T]TTTTCCTGATAATAC | 326 |
rs1055311 | snp | C/T | 0.345661 | 0.230993 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44289685 | GTGCATCCAGGTTGG[C/T]GGGGAGTTCTACACT | 326 |
rs1078480 | snp | C/T | 0.496483 | 0.0417852 | intron-variant | AIRE | GRCh38.p7 | 21:44291319 | CTGACTCAGAACCCC[C/T]TTCCATCTTGGATGG | 326 |
rs1133779 | snp | C/T | 0.49697 | 0.0388079 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44297667 | GCAGCACACCTTCGA[C/T]GGCATCCTGCAGTGG | 326 |
rs1800520 | snp | C/G | 0.266001 | 0.249495 | AIRE | 21 | allele_origin=G(germline)/C(germline) | 21:44290023 | GGGCCAGCAGGGCAG[C/G]GTTCCCGCCCCTCTG | 326 |
rs1800521 | snp | C/T | 0.470229 | 0.118319 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44293094 | CAAGCACCTGCCGGC[C/T]CCGCCTTCTGCAGCC | 326 |
rs1800523 | snp | G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44288475 | TAGACGCTGTGGCGG[G/T]GAGATGGGGCTGATG | 326 |
rs1800524 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44291261 | CCCGGTTCACGGCCG[A/C]CTCCACCCACTGACC | 326 |
rs1800525 | snp | A/G | 0.229329 | 0.249144 | AIRE | 21 | allele_origin=G(germline)/A(germline) | 21:44292407 | GGAGACCCCGGTATG[A/G]CCACGCCCCCTCCTA | 326 |
rs1800526 | snp | C/G | 0.403043 | 0.197681 | intron-variant | AIRE | GRCh38.p7 | 21:44294373 | CTGCTCCCCCCCAGG[C/G]CTGGCAGCCCCTCAT | 326 |
rs2072697 | snp | C/T | 0 | 0 | intron-variant | AIRE | GRCh38.p7 | 21:44288758 | GCCATGGGGTTGCAT[C/T]CTTAGAAAGTTCTGC | 326 |
rs2073609 | snp | C/T | 0.302936 | 0.244331 | intron-variant | AIRE | GRCh38.p7 | 21:44288093 | ATGCCTTCCTATCCA[C/T]TGTGCCAGCTCTGCT | 326 |
rs2073610 | snp | C/G | 0.245916 | 0.249967 | intron-variant | AIRE | GRCh38.p7 | 21:44290645 | CTGGCTGTCTGGGGG[C/G]ATTCTGGAGGAAGTG | 326 |
rs2073611 | snp | A/G | 0.102758 | 0.202039 | intron-variant | AIRE | GRCh38.p7 | 21:44290798 | CCACTGCCCTGTGAG[A/G]AAGGGTTCATGTGGT | 326 |
rs2073613 | snp | A/C/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44291320 | CATCCAAGATGGAAA[A/C/G]GGGTTCTGAGTCAGG | 326 |
rs2075875 | snp | C/T | 0.387453 | 0.208822 | intron-variant | AIRE | GRCh38.p7 | 21:44289258 | GGGGTACCCCTGTGC[C/T]CCTTGTTCCTGGGCT | 326 |
rs2075876 | snp | A/G | 0.387263 | 0.208947 | intron-variant | AIRE | GRCh38.p7 | 21:44289270 | tgctccttgttcctg[A/G]gctcaggacccaccg | 326 |
rs2075877 | snp | A/G | 0.199564 | 0.24486 | intron-variant | AIRE | GRCh38.p7 | 21:44290169 | TCAGGGATGAGCACC[A/G]GGGCCTGAGCCCCTA | 326 |
rs2075878 | snp | C/T | 0.498481 | 0.027514 | intron-variant | AIRE | GRCh38.p7 | 21:44296649 | CCCCCCTAGCCCCCT[C/T]GCAGGAGCCCCCCCC | 326 |
rs2256817 | snp | A/G | 0.498982 | 0.0225409 | intron-variant | AIRE | GRCh38.p7 | 21:44295503 | GTCAGGAGCCCAGCC[A/G]GGCATATACGCAGAT | 326 |
rs2516560 | snp | C/T | 0.297382 | 0.245469 | intron-variant | AIRE | GRCh38.p7 | 21:44289456 | GGTGGACGTGAACTT[C/T]GGGGGACGCTGTTGA | 326 |
rs2741985 | snp | C/T | 0.496778 | 0.0400063 | intron-variant | AIRE | GRCh38.p7 | 21:44291984 | TAACAGGTGGGTCAG[C/T]TTAGGGAGGCCCCCG | 326 |
rs2776377 | snp | A/G | 0.469642 | 0.119404 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284761 | CTCGTTCTCTGGCTC[A/G]GTGGGAACACTCGTG | 326 |
rs2847225 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44293330 | AGCGTGGGGGGCTGC[C/G]GGGGGAAGGGGACGC | 326 |
rs2847226 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44294241 | ACCCAAACCCACCCA[A/C]ACCCACCACTCCCAC | 326 |
rs2847227 | snp | C/T | 0.26518 | 0.249539 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298509 | AGCACATGGATGGAC[C/T]GCATTGTGTTCATCT | 326 |
rs2981609 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44294294 | ttcctcaccccccac[A/C]ccccccccccccact | 326 |
rs3016736 | snp | A/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44294268 | CCACTCTCCACCCAC[A/T]CCCACACCCCTTCCT | 326 |
rs3016737 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44294274 | TCCACCCACACCCAC[A/C]CCCCTTCCTCACACC | 326 |
rs3016738 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44294287 | acaccccttcctcac[A/C]ccccacacccccatc | 326 |
rs3214074 | in-del | -/A | 0.0965445 | 0.197361 | AIRE | 21 | allele_origin=A(germline)/(germline) | 21:44287633 | CCCTTCTCCCTGGCC[-/A]GGGGCAAGGGGTCAG | 326 |
rs3746964 | snp | C/T | 0.204785 | 0.245877 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44286105 | GCTGCACGCGCTGGC[C/T]GACCACGACGTGGTC | 326 |
rs3746965 | snp | A/G | 0.460252 | 0.135255 | intron-variant | AIRE | GRCh38.p7 | 21:44297529 | GTGCCATGGGGCCTC[A/G]GGCCTCAGTTTCCCC | 326 |
rs3746966 | snp | A/G/T | 0.00195197 | 0.0311835 | intron-variant | AIRE | GRCh38.p7 | 21:44297614 | TTCTGTGGCTGCGGC[A/G/T]GGGGCGCACCTGGAG | 326 |
rs3761388 | snp | C/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284886 | ACTGAGGCCACCCCC[C/G]CTCCAGGCCATGCCT | 326 |
rs3761389 | snp | A/G | 0.392696 | 0.205275 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285055 | TTCCCAGATGCCCCC[A/G]GAAGCTCCTGTCCAG | 326 |
rs3761390 | snp | C/G/T | 0.00956916 | 0.0685055 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285356 | CCCAGGCTGCCGTAC[C/G/T]GTCTCCTGCATCAGA | 326 |
rs3761391 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285357 | CCAGGCTGCCGTACC[A/G]TCTCCTGCATCAGAC | 326 |
rs3788113 | snp | A/G | 0.452103 | 0.147154 | intron-variant | AIRE | GRCh38.p7 | 21:44295737 | GTGGCCCCAGACCCC[A/G]TCCTGAGCAGCTCTC | 326 |
rs5844181 | in-del | -/C | 0 | 0 | intron-variant | AIRE | GRCh38.p7 | 21:44292475 | TCCTAGGCTGGGCCA[-/C]CCCCTCCTGTCCGTC | 326 |
rs7281600 | snp | A/C/G | 0.00995342 | 0.0699012 | AIRE | 21 | allele_origin=G(germline)/A(germline) | 21:44294404 | CCTCTGCTGCAGGAC[A/C/G]GGCCTGCGCTGCAGA | 326 |
rs8127877 | snp | C/T | 0.0103295 | 0.0711199 | intron-variant | AIRE | GRCh38.p7 | 21:44291544 | CCCACCCCCAAGCCC[C/T]ACCCCAGAGTCCCAC | 326 |
rs8128448 | snp | A/C | 0.444444 | 0.157135 | intron-variant | AIRE | GRCh38.p7 | 21:44291577 | CAGACAGGGCTGGGG[A/C]GCACAGAGGCCACAG | 326 |
rs9974092 | snp | A/G | 0.17654 | 0.238964 | intron-variant | AIRE | GRCh38.p7 | 21:44297364 | CCATGAACTGCCATG[A/G]GGATGTGCCCTGGGC | 326 |
rs9974362 | snp | C/T | 0.226779 | 0.248919 | intron-variant | AIRE | GRCh38.p7 | 21:44289139 | ACAAACTGGGAGGCT[C/T]GAAATGACAGAAATG | 326 |
rs9978641 | snp | A/C | 0.0267878 | 0.112589 | utr-variant-5-prime | AIRE | GRCh38.p7 | 21:44285887 | GACCGGGGAGACGGG[A/C]GGGCGCACAGCCGGC | 326 |
rs9982393 | snp | C/T | 0.0429648 | 0.14013 | intron-variant | AIRE | GRCh38.p7 | 21:44295297 | TACTCCCCAGGAGGG[C/T]GACAGCCTACCCCAG | 326 |
rs9983695 | snp | C/T | 0.447938 | 0.152711 | intron-variant | AIRE | GRCh38.p7 | 21:44291925 | TCCTTGCCGTCTCTT[C/T]CTGCCCTTGATCACC | 326 |
rs11454989 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44289278 | TTCCTGGGCTCAGGA[-/C]CCCACCGCTCCAGCC | 326 |
rs11908988 | snp | A/G | 0.0460142 | 0.144533 | intron-variant | AIRE | GRCh38.p7 | 21:44293454 | AGCCCTCCCCTCCCT[A/G]CCTCAATTCCCTTCC | 326 |
rs11910214 | snp | C/T | 0.00530819 | 0.0512437 | missense | AIRE | GRCh38.p7 | 21:44287550 | AGCCCCCCAAGAAGC[C/T]GGAGAGCAGCGCAGA | 326 |
rs11910369 | snp | C/T | 0.0150606 | 0.0854603 | intron-variant | AIRE | GRCh38.p7 | 21:44295239 | TCCCAGCTGTGCCTC[C/T]GCCCCGTATACACCG | 326 |
rs11911657 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | AIRE | GRCh38.p7 | 21:44293313 | CCTGGGGCTGTGGGG[A/G]GAGCGTGGGGGGCTG | 326 |
rs12627511 | snp | A/C | 0.375 | 0.216506 | intron-variant | AIRE | GRCh38.p7 | 21:44292462 | TGGCCACGCCCCCTC[A/C]TAGGCTGGGCCACCC | 326 |
rs28398244 | snp | C/T | 0.0437281 | 0.141251 | intron-variant | AIRE | GRCh38.p7 | 21:44296316 | GCGGCCCCTAGGCCC[C/T]GCGGCCTCTGTACCC | 326 |
rs28408186 | snp | A/G | 0.220246 | 0.248223 | intron-variant | AIRE | GRCh38.p7 | 21:44296252 | GTGCCCCCACCCCCA[A/G]TGGAGCTGGGTGTAA | 326 |
rs34219046 | snp | G/T | 0.00224399 | 0.033421 | AIRE | 21 | allele_origin=G(germline)/T(germline) | 21:44288354 | ACTGAAGCTGACATG[G/T]TCTGAATCCCTGGGA | 326 |
rs34222038 | in-del | -/CTGT | | | intron-variant | AIRE | GRCh38.p7 | 21:44296947 | TTTTAAGGGCTCTGT[-/CTGT]TTTTGCCAAGAGGAT | 326 |
rs34332800 | in-del | -/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44297109 | CTGCAGAGCCCCAGG[-/G]CCTGAGAGTGGGCCA | 326 |
rs34397615 | snp | A/G | 0.00589044 | 0.0539493 | AIRE | 21 | allele_origin=G(germline)/A(germline) | 21:44289759 | CGAACCAGAGGCTTC[A/G]GGCCACTGCTGCTGC | 326 |
rs34406174 | in-del | -/CCC | | | intron-variant | AIRE | GRCh38.p7 | 21:44286371 | TGGCCTCCAGGTTCC[-/CCC]AGCCCCACCCTCAAC | 326 |
rs34586585 | multinucleotide-polymorphism | CT/TA | | | intron-variant | AIRE | GRCh38.p7 | 21:44296676 | CCCCGGCCCCTCCCC[CT/TA]GCGGGAGCCCAGTGC | 326 |
rs34595068 | in-del | -/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44293254 | TTCACCTGAAACAGG[-/T]AGGAGAGGGAGGCCA | 326 |
rs34989190 | in-del | -/A | | | frameshift-variant | AIRE | GRCh38.p7 | 21:44293128 | TGCCAGGGCTGGACT[-/A]CCTCGGCCCTGCACC | 326 |
rs35090245 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44293224 | CAAGGAGCCCAGGAC[-/C]TACGGGGCGGATGAA | 326 |
rs35110251 | snp | C/G/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285688 | CCAGCCCCCAAGGCA[C/G/T]CTGCCCTGGTGGGTG | 326 |
rs35263643 | in-del | -/T | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298400 | TGTCCTTTTGTGTCT[-/T]GTCTTATTTTACTCA | 326 |
rs35271728 | in-del | -/A | | | intron-variant | AIRE | GRCh38.p7 | 21:44291448 | GAGGGCAGCAAAGCA[-/A]GAACAGAGGCCCAGG | 326 |
rs35695517 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44287684 | CTCTGAGACCCTGTC[-/C]TAGGGGCTGGGGACG | 326 |
rs35732744 | in-del | -/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44291609 | GCTGTGCCCCCCAGG[-/G]CAGGTGGGAGTTTGT | 326 |
rs35915793 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44296672 | CCCCCCCCGGCCCCT[A/C]CCCCTGCGGGAGCCC | 326 |
rs36218769 | snp | G/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284288 | ACAGGCTGGCTCCTG[G/T]GTGGAATGTCCTGGG | 326 |
rs36218770 | snp | A/C/G | 0.00119737 | 0.0244387 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284262 | CTGGGAGCCTTGAGC[A/C/G]GGGAGCAGGGCCCTC | 326 |
rs36218771 | snp | G/T | 0.0644444 | 0.167538 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284190 | CCTTCCGAAGACCCC[G/T]AGAGGGAAGCCCCCT | 326 |
rs36218772 | snp | A/G | 0.00835141 | 0.0640778 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284101 | GCCGGGCTGCTGCTC[A/G]CTGGGTTTCCTGCCC | 326 |
rs36218773 | snp | A/G | 0.0240643 | 0.107019 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285170 | GTGCTTTAGAAGGAA[A/G]GCGGCCAGCCCCACA | 326 |
rs36219105 | snp | C/T | 0.0209421 | 0.100162 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284969 | AGTGGGGACAGTGCC[C/T]CCAGTAAAACAAGAC | 326 |
rs36219106 | snp | C/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284885 | GGCATGGCCTGGAGG[C/G]GGGGTGGCCTCAGTG | 326 |
rs36219107 | snp | C/G | 0.0146672 | 0.084371 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44283838 | GGGAACCAGCGCACA[C/G]AGCTTTGGGATGACC | 326 |
rs41276642 | snp | C/T | | | missense | AIRE | GRCh38.p7 | 21:44287098 | CTCGAGCTGCCGCGC[C/T]AGCAGCCCTGACTCC | 326 |
rs41277544 | snp | A/G | 0.0793984 | 0.182743 | intron-variant | AIRE | GRCh38.p7 | 21:44288314 | AACAGTCTTCCCCAC[A/G]GGTGACCCCAATGGG | 326 |
rs41277546 | snp | C/T | 0.0258108 | 0.110631 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44288472 | AGGTAGACGCTGTGG[C/T]GGGGAGATGGGGCTG | 326 |
rs41277548 | snp | C/T | 0.114387 | 0.210022 | intron-variant | AIRE | GRCh38.p7 | 21:44289512 | TCCCCGGGCCCCAGA[C/T]TCGACTGGGGTGGGG | 326 |
rs41277550 | snp | C/G/T | 0.00140893 | 0.026511 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289802 | CCAGGGCGCTGCCCC[C/G/T]GTAAGCACCTGACCT | 326 |
rs41277552 | snp | A/G | 0.0260105 | 0.111035 | intron-variant | AIRE | GRCh38.p7 | 21:44296328 | CCCTGCGGCCTCTGT[A/G]CCCCCACCAGGGCTG | 326 |
rs41296229 | snp | C/T | 0.124144 | 0.21601 | intron-variant | AIRE | GRCh38.p7 | 21:44294637 | CAGACGCACTGACCA[C/T]GTGCTCATTATCTGT | 326 |
rs41307215 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44294319 | CCCACTCACCACCCA[A/C]GCCCACACCCCACAC | 326 |
rs55752112 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | AIRE | GRCh38.p7 | 21:44293600 | GGTGCTTGGGTCGCC[C/T]CTGCCTCCTGGGGAT | 326 |
rs55791826 | snp | A/C | 0.0543475 | 0.155628 | intron-variant | AIRE | GRCh38.p7 | 21:44286320 | TTGGTCCCCTTCCCC[A/C]AGCCGTCCCCACACC | 326 |
rs55840791 | snp | C/T | 3.5307e-05 | 0.00420146 | missense | AIRE | GRCh38.p7 | 21:44293888 | TGGCGCTGCCACTTC[C/T]CAGCCGGCACCTCCC | 326 |
rs55861465 | snp | C/G | 0.00597247 | 0.0543191 | intron-variant | AIRE | GRCh38.p7 | 21:44289884 | TCTGGGGGAGTGGCT[C/G]TGCTGGGGGCTGGGG | 326 |
rs55928872 | snp | A/G | 0.0142736 | 0.0832652 | intron-variant | AIRE | GRCh38.p7 | 21:44293438 | TCCCAGCACACGTGG[A/G]AGCCCTCCCCTCCCT | 326 |
rs55957439 | snp | A/G | 5.10817e-05 | 0.00505354 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297742 | ACCCCAGATGGCCGG[A/G]ACATGCAGCTCTGAT | 326 |
rs56146315 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | AIRE | GRCh38.p7 | 21:44286457 | TGTCCAGGTCGCCAG[C/T]GCCTCTGCCTGGGAG | 326 |
rs56171459 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44287446 | CACGCCCTCCCACCG[C/T]GGGCCCCTGCCCACC | 326 |
rs56179981 | snp | C/T | | | synonymous-codon | AIRE | GRCh38.p7 | 21:44290062 | CAGTGACCCCCAGCT[C/T]CACCAGGTAATGCCC | 326 |
rs56194125 | snp | C/T | | | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44298032 | AGCTACATGGGAGCC[C/T]GAGGCATGAGAATCA | 326 |
rs56283985 | snp | C/G | 0.00795532 | 0.062565 | intron-variant | AIRE | GRCh38.p7 | 21:44293597 | GAGGGTGCTTGGGTC[C/G]CCCCTGCCTCCTGGG | 326 |
rs56328754 | snp | A/G | 0.238749 | 0.249747 | intron-variant | AIRE | GRCh38.p7 | 21:44296665 | GCAGGAGCCCCCCCC[A/G]GCCCCTCCCCCTGCG | 326 |
rs56363875 | snp | C/T | 0.00874735 | 0.0655527 | intron-variant | AIRE | GRCh38.p7 | 21:44287433 | GGACCGCCCCCTCCA[C/T]GCCCTCCCACCGCGG | 326 |
rs56393821 | snp | C/T | | | missense | AIRE | GRCh38.p7 | 21:44291117 | AGGACGAGTGTGCCG[C/T]GTGTCGGGACGGCGG | 326 |
rs58274041 | snp | C/G | 0.0633504 | 0.166319 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285603 | TCGAGCAGGGCCCTC[C/G]CCGAGGCAGGACAGG | 326 |
rs59281354 | snp | C/G | | | missense | AIRE | GRCh38.p7 | 21:44291210 | TCCGGGAGATCCCCA[C/G]GTGAGCCTGCACCTC | 326 |
rs59597933 | snp | A/G | 0.0448719 | 0.142907 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44283856 | TGCGCTGGTTCCCTG[A/G]CACCCCAGGGGCTTT | 326 |
rs60326748 | in-del | -/G | 0.382473 | 0.212016 | intron-variant | AIRE | GRCh38.p7 | 21:44296827 | GTGGGGCGTGGGAGT[-/G]GGGGGGGGGTCCCAG | 326 |
rs60821379 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44296664 | GCAGGAGCCCCCCCC[-/C]GGCCCCTCCCCCTGC | 326 |
rs61737006 | snp | A/G | 0.00196324 | 0.0312693 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293013 | CCCGGGGCTTAGGTC[A/G]GCGGGAGAGGAGGTA | 326 |
rs61737072 | snp | C/T | 0.036215 | 0.129599 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44293100 | CCTGCCGGCTCCGCC[C/T]TCTGCAGCCCCGCTG | 326 |
rs62220372 | snp | C/T | 0.0729998 | 0.176553 | intron-variant | AIRE | GRCh38.p7 | 21:44286855 | GTTCCAGGACCGTCT[C/T]GGATCCTAAGAGGCA | 326 |
rs62220373 | snp | G/T | 0.0481103 | 0.147447 | intron-variant | AIRE | GRCh38.p7 | 21:44287642 | CTGGCCAGGGGCAAG[G/T]GGTCAGGGGTCAGAG | 326 |
rs62220374 | snp | C/G | 0.392325 | 0.205532 | intron-variant | AIRE | GRCh38.p7 | 21:44289288 | TCAGGACCCACCGCT[C/G]CAGCCTCTGCTTCTG | 326 |
rs72650674 | snp | C/T | 0.00061684 | 0.017551 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287590 | CCTTCCACTCGGGAA[C/T]GGTGAGCGGGGCCCA | 326 |
rs72650675 | snp | A/G/T | 0.00178197 | 0.0297971 | intron-variant | AIRE | GRCh38.p7 | 21:44289971 | GCCCCCATTGCTGAC[A/G/T]CCCCTCTTCCTTGCA | 326 |
rs72650676 | snp | A/G | 0.001526 | 0.0275803 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293112 | GCCTTCTGCAGCCCC[A/G]CTGCCAGGGCTGGAC | 326 |
rs72650677 | snp | C/T | 0.0026481 | 0.036291 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44293832 | TGTGCGGAGATGGTA[C/T]GGACGTGCTGCGGTG | 326 |
rs72650678 | snp | C/T | 0.0147633 | 0.0846387 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44293771 | CCCCGCGTCACCCCG[C/T]GCTGTTGCCTCCCAC | 326 |
rs72650679 | snp | A/C/T | 0.00372365 | 0.0429938 | synonymous-codon | AIRE | GRCh38.p7 | 21:44294476 | GCTGGCCCCCAGCCC[A/C/T]GCCCGCCTGGCCCCT | 326 |
rs72650680 | snp | C/T | 0.00457999 | 0.0476342 | intron-variant | AIRE | GRCh38.p7 | 21:44296453 | TGAGCGAGGTAACGC[C/T]TCCCCTGGCCTCCTG | 326 |
rs72650681 | snp | C/G | 0.00358779 | 0.0422022 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297806 | GTCCTGGAAGCCGGC[C/G]GGCTGGGATCAAGAA | 326 |
rs73368438 | snp | A/G | 0.0667028 | 0.170006 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284774 | TCAGTGGGAACACTC[A/G]TGCCCAGAGACCTCT | 326 |
rs73368445 | snp | A/G | 0.0930568 | 0.194599 | intron-variant | AIRE | GRCh38.p7 | 21:44294739 | GGGTTGGTGGCTGAC[A/G]TCACGGTTGGCTGTG | 326 |
rs73907152 | snp | C/T | 0.097727 | 0.198275 | intron-variant | AIRE | GRCh38.p7 | 21:44286466 | CGCCAGCGCCTCTGC[C/T]TGGGAGCTCCACCCT | 326 |
rs73907154 | snp | C/G | 0.0482946 | 0.147699 | intron-variant | AIRE | GRCh38.p7 | 21:44289200 | CCTCTGGAGGCTCCA[C/G]GGAAGAATCCTTCCT | 326 |
rs73907156 | snp | A/G | 0.0528381 | 0.153711 | intron-variant | AIRE | GRCh38.p7 | 21:44289355 | AGGACACCAGTCATT[A/G]AACTTATGGTCCAGT | 326 |
rs73907157 | snp | A/G/T | 0.00716266 | 0.059414 | intron-variant | AIRE | GRCh38.p7 | 21:44290576 | CCCGGGCTGGTGGGC[A/G/T]TCTGGGGGATTGTTA | 326 |
rs73907161 | snp | G/T | 0.0228947 | 0.104514 | intron-variant | AIRE | GRCh38.p7 | 21:44294940 | AGCCCTCTCAGAGAG[G/T]CAAAGTGACCCCGGG | 326 |
rs74162060 | snp | A/C/G | 0.0019057 | 0.0308098 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287018 | GGGGAGGAAGCCCCC[A/C/G]GCCGTCCCCAAGGCT | 326 |
rs74162061 | snp | A/G | 0.00245769 | 0.0349686 | AIRE | 21 | allele_origin=G(germline)/A(germline) | 21:44288401 | ATGTCCTCCGGGGAC[A/G]TCCCGGGAGCCCGAG | 326 |
rs74162062 | snp | C/G | 0.000234588 | 0.0108277 | missense | AIRE | GRCh38.p7 | 21:44291142 | CGGCGGGGAGCTCAT[C/G]TGCTGTGACGGCTGC | 326 |
rs74162063 | snp | C/T | 0.000348117 | 0.0131885 | missense | AIRE | GRCh38.p7 | 21:44291197 | CTGTCCCCTCCGCTC[C/T]GGGAGATCCCCAGGT | 326 |
rs74162064 | snp | C/G | | | synonymous-codon | AIRE | GRCh38.p7 | 21:44293145 | CTCGGCCCTGCACCC[C/G]CTACTGTGTGTGGGT | 326 |
rs74162065 | snp | A/G | 0.00131492 | 0.0256073 | intron-variant | AIRE | GRCh38.p7 | 21:44294535 | CCCTCCATGCATGCC[A/G]GTGCTGGGGGTGGGG | 326 |
rs74203920 | snp | A/C/T | 0.0419072 | 0.138562 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44294411 | TGCAGGACGGGCCTG[A/C/T]GCTGCAGATCCTGCT | 326 |
rs74822474 | snp | C/T | 0.0134861 | 0.0810011 | intron-variant | AIRE | GRCh38.p7 | 21:44292671 | CATTGATAACGGCCC[C/T]GGAAGATGTGTTCCT | 326 |
rs75039713 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288560 | GTCCCACAGCAGACC[A/G]GACTGTTGCTCAGGT | 326 |
rs75176081 | snp | A/C | 0.130351 | 0.219509 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298544 | TTTCCTCAGCAGACA[A/C]CTGGGTGCTTCCACC | 326 |
rs75243213 | snp | A/G | 0.0256215 | 0.110247 | intron-variant | AIRE | GRCh38.p7 | 21:44293731 | ACAGGGCTCGGGTTC[A/G]GGTTCAGCTACATTT | 326 |
rs75349680 | snp | C/G | 0.0107246 | 0.0724382 | intron-variant | AIRE | GRCh38.p7 | 21:44294714 | TAGTTAAAAAGGAAG[C/G]TCCCCCCGAGGGTTG | 326 |
rs75809937 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | AIRE | GRCh38.p7 | 21:44288690 | CCCACATCCCCACCC[A/G]GGATGTACAGCACTC | 326 |
rs76156929 | snp | A/T | 0.103794 | 0.20279 | intron-variant | AIRE | GRCh38.p7 | 21:44296935 | GGAAAATGTGACTTT[A/T]AAGGGCTCTGTCTGT | 326 |
rs76165312 | snp | C/T | 0.00755907 | 0.0610114 | intron-variant | AIRE | GRCh38.p7 | 21:44295520 | GCATATACGCAGATG[C/T]CCCTCCCTAACCCCA | 326 |
rs77222628 | snp | C/T | 0.0178098 | 0.0926698 | intron-variant | AIRE | GRCh38.p7 | 21:44295387 | GCACAAGCCTCAGAC[C/T]CAGCCCTGCCCTTGG | 326 |
rs77358569 | snp | C/T | 0.0174175 | 0.0916809 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298288 | GCCCCATGAAACACT[C/T]ACTCCCCATTCCCCT | 326 |
rs77492303 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | AIRE | GRCh38.p7 | 21:44286434 | AGCCGAGGAGATGGG[C/T]GTGGAGCTGTCCAGG | 326 |
rs77919387 | snp | G/T | 0.0182019 | 0.0936463 | intron-variant | AIRE | GRCh38.p7 | 21:44297173 | CTGGATGGGGTCCCC[G/T]GGTATAGCTGGAGAA | 326 |
rs78245838 | snp | C/T | 0.00426892 | 0.0460026 | intron-variant | AIRE | GRCh38.p7 | 21:44292284 | CTGCATGTCTCTGAC[C/T]GGTGGACACACGAGC | 326 |
rs78737636 | snp | A/C | 0.00318978 | 0.0398085 | intron-variant | AIRE | GRCh38.p7 | 21:44294841 | CCCGGCCTGCAGGAG[A/C]AAACCCCCACCCTGT | 326 |
rs79005199 | snp | A/G | 0.00597247 | 0.0543191 | intron-variant | AIRE | GRCh38.p7 | 21:44295059 | CTTGCCCTGGAGCTG[A/G]GTGTGGGGGAGGCCC | 326 |
rs79084315 | snp | C/G | 0.00835141 | 0.0640778 | intron-variant | AIRE | GRCh38.p7 | 21:44297115 | AGCCCCAGGGCCTGA[C/G]AGTGGGCCAGGGGGC | 326 |
rs79177752 | snp | A/C | 0.18989 | 0.242666 | intron-variant | AIRE | GRCh38.p7 | 21:44291709 | CTTCCCCACGGCCCA[A/C]CGAGCCCTGCCCCCA | 326 |
rs79212750 | snp | C/T | 0.0107246 | 0.0724382 | intron-variant | AIRE | GRCh38.p7 | 21:44289406 | CACATCTACAAAGAC[C/T]CTGATTTCAAGTAAG | 326 |
rs79212994 | snp | A/C/T | 0.0016211 | 0.0284244 | missense | AIRE | GRCh38.p7 | 21:44293015 | CGGGGCTTAGGTCGG[A/C/T]GGGAGAGGAGGTAAG | 326 |
rs79330817 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44288080 | CTGGTCATTGGTCAT[A/G]CCTTCCTATCCATTG | 326 |
rs111354908 | snp | C/T | 0.00184624 | 0.0303268 | intron-variant | AIRE | GRCh38.p7 | 21:44293955 | GAACCCACACCCACA[C/T]CCTACACCCCACCCC | 326 |
rs111411199 | snp | C/T | 0.491732 | 0.0637633 | intron-variant | AIRE | GRCh38.p7 | 21:44294137 | CTCCCCACCTCATAC[C/T]CTGCACCTCACCACA | 326 |
rs111642117 | in-del | -/A | 0.132259 | 0.220538 | intron-variant | AIRE | GRCh38.p7 | 21:44295097 | GCTGCAGGAGCCTCC[-/A]GGGGGGGTGGCCTCT | 326 |
rs111722927 | snp | G/T | 0.0240643 | 0.107019 | intron-variant | AIRE | GRCh38.p7 | 21:44290123 | TGCTCCCCTCGGGTG[G/T]GTCCTGCTGCCTCTG | 326 |
rs111788622 | snp | C/T | 0.0341408 | 0.126114 | intron-variant | AIRE | GRCh38.p7 | 21:44296734 | ACAAGAGCCCCCACA[C/T]GGCCCCTCCCCTGAG | 326 |
rs111925575 | snp | C/G | 0 | 0 | intron-variant | AIRE | GRCh38.p7 | 21:44287219 | CTCCCCACCCGGGCT[C/G]CCACCCACTGGGTGT | 326 |
rs112195627 | snp | A/G | 0.0248432 | 0.108648 | intron-variant | AIRE | GRCh38.p7 | 21:44294614 | GTGCCAGCTTCGAGG[A/G]CTTGCACCAGACGCA | 326 |
rs112571191 | snp | A/C | 0.00716266 | 0.059414 | intron-variant | AIRE | GRCh38.p7 | 21:44288112 | GCCAGCTCTGCTGAC[A/C]CTGCCACCCCCCAGC | 326 |
rs112759342 | snp | A/G | 0.5 | 0 | intron-variant | AIRE | GRCh38.p7 | 21:44287412 | GCAAAGGGACTACCC[A/G]GCACTGGACCGCCCC | 326 |
rs112959177 | snp | C/T | 0.00478085 | 0.0486577 | intron-variant | AIRE | GRCh38.p7 | 21:44295851 | AGGGCTGCCGGGCCT[C/T]GCAGCGCCAGTGTTC | 326 |
rs112983500 | snp | G/T | 0.0023933 | 0.0345097 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284756 | GTCATCTCGTTCTCT[G/T]GCTCAGTGGGAACAC | 326 |
rs113053415 | snp | A/G | 0.0228947 | 0.104514 | intron-variant | AIRE | GRCh38.p7 | 21:44295294 | TGGTACTCCCCAGGA[A/G]GGTGACAGCCTACCC | 326 |
rs113302734 | snp | C/T | 0.5 | 0 | intron-variant | AIRE | GRCh38.p7 | 21:44287871 | CCCTATCCTTCAGGA[C/T]CAGCCTAGACATAGC | 326 |
rs113512196 | snp | C/G | 0.00976006 | 0.069172 | AIRE | 21 | allele_origin=G(germline)/C(germline) | 21:44292984 | CTGATGCTGACCCTT[C/G]GGTTCCAGCTCCCCC | 326 |
rs113761004 | snp | A/G | 0.00119737 | 0.0244387 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285346 | CCTGGCAACACCCAG[A/G]CTGCCGTACCGTCTC | 326 |
rs113799814 | snp | A/T | 0.0425829 | 0.139564 | intron-variant | AIRE | GRCh38.p7 | 21:44294822 | TGAAGGGAGAGCGGG[A/T]GCGCCCGGCCTGCAG | 326 |
rs114341040 | snp | C/G | 0.0150606 | 0.0854603 | intron-variant | AIRE | GRCh38.p7 | 21:44295001 | TCCGGGGTCAGAGAG[C/G]ACCTGGGTGGCGCGG | 326 |
rs114648944 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | AIRE | GRCh38.p7 | 21:44295560 | CCTGCAACTGCTCCC[A/G]CAGCGGGTACCTCGT | 326 |
rs114654407 | snp | C/G | 0.0130921 | 0.0798413 | intron-variant | AIRE | GRCh38.p7 | 21:44291665 | TAGTGGGGGCGGGAG[C/G]CCTCCTCTGCGTTCA | 326 |
rs114771343 | snp | G/T | 0.0588605 | 0.161139 | intron-variant | AIRE | GRCh38.p7 | 21:44291349 | GGTCACTGGGCCGTG[G/T]GGCCGGGGCCTGGGG | 326 |
rs115011129 | snp | A/G | 0.00953873 | 0.0683987 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297807 | TCCTGGAAGCCGGCC[A/G]GCTGGGATCAAGAAG | 326 |
rs115014929 | snp | C/T | 0.0119091 | 0.0762411 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284615 | CAAAAGCAAACGGCA[C/T]GCCTGCCCACGTGGG | 326 |
rs115383177 | snp | A/G | 0.0228947 | 0.104514 | intron-variant | AIRE | GRCh38.p7 | 21:44296537 | TGGGGGAGGACTGCC[A/G]GCCCCCACTGCTCTT | 326 |
rs115787564 | snp | A/C | 0.0298908 | 0.118541 | intron-variant | AIRE | GRCh38.p7 | 21:44293993 | CCACCCACATCATAC[A/C]GCCCACAACCACACC | 326 |
rs115932051 | snp | C/T | 0.046775 | 0.145601 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285231 | GCCTCAATCCCCAGG[C/T]GAGTGTGCCCCTTTT | 326 |
rs116103856 | snp | C/T | 0.0028187 | 0.0374354 | intron-variant | AIRE | GRCh38.p7 | 21:44296467 | CCTCCCCTGGCCTCC[C/T]GGTGCTCCTCCACTC | 326 |
rs116409210 | snp | C/G | 0.0123036 | 0.0774623 | intron-variant | AIRE | GRCh38.p7 | 21:44289567 | GGGAACTCCACCTGT[C/G]TCTGCTAGACCCCAC | 326 |
rs116482131 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | AIRE | GRCh38.p7 | 21:44295991 | TTCTCCCACTCTGGT[C/T]GCTCACCTATAGTGT | 326 |
rs116811070 | snp | C/T | 0.0197687 | 0.0974348 | intron-variant | AIRE | GRCh38.p7 | 21:44290575 | ACCCGGGCTGGTGGG[C/T]GTCTGGGGGATTGTT | 326 |
rs117470030 | snp | C/T | 0.02016 | 0.0983543 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284642 | TGGGAATCTTGGTGG[C/T]GTCTCTCACTGCATC | 326 |
rs117557896 | snp | A/G | 0.0165278 | 0.0893908 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285352 | AACACCCAGGCTGCC[A/G]TACCGTCTCCTGCAT | 326 |
rs117672433 | snp | C/T | 0.0111196 | 0.0737302 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284837 | CTTCCCTGGCTTGAC[C/T]GCACAGACAAGGGGA | 326 |
rs117917332 | snp | C/T | 0.00478085 | 0.0486577 | intron-variant | AIRE | GRCh38.p7 | 21:44287334 | GAAGGCTGAGCTCCC[C/T]GGAGCTGGTGAAGTA | 326 |
rs121434254 | snp | A/C/T | 0.00143148 | 0.0267153 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44289773 | CCGAAGCCTCTGGTT[A/C/T]GAGCCAAGGGAGCCC | 326 |
rs121434255 | snp | A/G | | | missense | AIRE | GRCh38.p7 | 21:44286671 | TGGAGGGTGCTGTTC[A/G]AGGACTACAACCTGG | 326 |
rs121434256 | snp | C/G/T | 0.000143322 | 0.00846425 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44287085 | GCCTCAGAAGAGGCT[C/G/T]GAGCTGCCGCGCCAG | 326 |
rs121434257 | snp | A/G/T | 0.000100602 | 0.0070916 | AIRE | 21 | allele_origin=G(germline)/T(germline) | 21:44289686 | TGCATCCAGGTTGGC[A/G/T]GGGAGTTCTACACTC | 326 |
rs121434258 | snp | A/G/T | 0.000187143 | 0.00967143 | AIRE | 21 | allele_origin=T(germline)/A(germline) | 21:44286007 | CCCCGCGCCCACCCC[A/G/T]TGGCGACGGACGCGG | 326 |
rs137910738 | snp | A/G | 6.62932e-05 | 0.00575693 | intron-variant | AIRE | GRCh38.p7 | 21:44290985 | GGCAGAGACTGGGGA[A/G]TTCAGGTACCCAGAG | 326 |
rs138061336 | snp | C/T | 0.0134861 | 0.0810011 | intron-variant | AIRE | GRCh38.p7 | 21:44295346 | GGTGACAGGCTTCCC[C/T]GGCATGCAGGCTCTG | 326 |
rs138066507 | snp | C/T | 0.00197122 | 0.0313325 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44289793 | CAAGGGAGCCCAGGG[C/T]GCTGCCCCCGTAAGC | 326 |
rs138489664 | snp | A/C/G/T | 0.000120471 | 0.0077604 | splice-donor-variant | AIRE | GRCh38.p7 | 21:44289803 | CAGGGCGCTGCCCCC[A/C/G/T]TAAGCACCTGACCTT | 326 |
rs138605267 | snp | A/G | 0.0150606 | 0.0854603 | intron-variant | AIRE | GRCh38.p7 | 21:44295123 | CCTCTTGCCCTGACC[A/G]TCCCCAGCAGAGGCC | 326 |
rs138704900 | snp | C/T | 0.00478085 | 0.0486577 | intron-variant | AIRE | GRCh38.p7 | 21:44291910 | TCCTGAAGCCGTTCC[C/T]CCTTGCCGTCTCTTT | 326 |
rs138949170 | snp | C/T | 0.000408288 | 0.0142821 | missense | AIRE | GRCh38.p7 | 21:44287538 | AACTGAAGGCCAAGC[C/T]CCCCAAGAAGCCGGA | 326 |
rs139012063 | snp | A/G | 6.6346e-05 | 0.00575922 | intron-variant | AIRE | GRCh38.p7 | 21:44290921 | AGACCAGATGGATGG[A/G]GAACAGGTGGTCAGG | 326 |
rs139163713 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44286422 | GACTCCACCACAAGC[C/T]GAGGAGATGGGCGTG | 326 |
rs139268532 | snp | C/T | 0.00597247 | 0.0543191 | intron-variant | AIRE | GRCh38.p7 | 21:44288917 | ACCCCATGCAATCAC[C/T]AGTGCCATCTGACCA | 326 |
rs139300410 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44287946 | AACCCTTCCTGTCCC[C/T]TTCTCCTTCCTTCCC | 326 |
rs139370892 | snp | C/G | 0.0123036 | 0.0774623 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285044 | TCCCGGACACCTTCC[C/G]AGATGCCCCCGGAAG | 326 |
rs139620961 | snp | A/G | 0.000101117 | 0.00710974 | missense | AIRE | GRCh38.p7 | 21:44289659 | CATCTCCTCCCAGGC[A/G]GCTCCAAGAAGTGCA | 326 |
rs139659079 | snp | A/G | 0.00149273 | 0.0272789 | intron-variant | AIRE | GRCh38.p7 | 21:44291077 | CCAGTCTGCATGGGC[A/G]TCTCTTGCCTGTGCC | 326 |
rs139808903 | snp | A/G | 0.000367156 | 0.0135441 | missense | AIRE | GRCh38.p7 | 21:44291123 | AGTGTGCCGTGTGTC[A/G]GGACGGCGGGGAGCT | 326 |
rs139835427 | snp | A/G | 0.000213767 | 0.0103362 | missense | AIRE | GRCh38.p7 | 21:44293904 | CAGCCGGCACCTCCC[A/G]GCCCGGGTGAGTGAG | 326 |
rs139874934 | snp | C/G/T | 8.47657e-05 | 0.00650973 | missense | AIRE | GRCh38.p7 | 21:44291161 | TGTGACGGCTGCCCT[C/G/T]GGGCCTTCCACCTGG | 326 |
rs139930470 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44288119 | CTGCTGACACTGCCA[-/C]CCCCCCAGCACACGC | 326 |
rs139969357 | snp | A/C | 0.00318978 | 0.0398085 | intron-variant | AIRE | GRCh38.p7 | 21:44288571 | GACCGGACTGTTGCT[A/C]AGGTAGCCAGAGTTT | 326 |
rs139973988 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44297083 | CCCACACACCCTGAC[C/T]GTGCAGGTGTCTGCA | 326 |
rs139991656 | snp | A/C | 0.00279162 | 0.0372561 | intron-variant | AIRE | GRCh38.p7 | 21:44296246 | AGCCCTGTGCCCCCA[A/C]CCCCAGTGGAGCTGG | 326 |
rs140060770 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44290258 | ATGGTAATAGTTTAA[A/G]TGAGTCAGAGAAAGT | 326 |
rs140196414 | snp | C/T | 0.000315953 | 0.0125649 | missense | AIRE | GRCh38.p7 | 21:44288405 | CCTCCGGGGACGTCC[C/T]GGGAGCCCGAGGGGC | 326 |
rs140499011 | snp | C/T | 0.00517822 | 0.0506191 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44283934 | TGATGTTAGTGAGCT[C/T]TCCCTTCGTGAGACC | 326 |
rs140630532 | snp | C/T | 0.000153988 | 0.00877328 | missense | AIRE | GRCh38.p7 | 21:44286698 | CTGGAGCGCTATGGC[C/T]GGCTGCAGCCCATCC | 326 |
rs140743143 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295820 | CCAGACCGGGCAGCC[C/T]CTCCCTCAGCCATGC | 326 |
rs140770097 | snp | A/G | | | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298201 | CTTTTCAGTTCAGTG[A/G]CATTCACATCTCATG | 326 |
rs140807789 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | AIRE | GRCh38.p7 | 21:44292859 | CTTCCACCATGCCAG[C/T]CCTCCGCCCCCACCA | 326 |
rs140835367 | snp | A/G | 8.5907e-05 | 0.00655333 | missense | AIRE | GRCh38.p7 | 21:44289797 | GGAGCCCAGGGCGCT[A/G]CCCCCGTAAGCACCT | 326 |
rs140965390 | in-del | -/G | 0.00632643 | 0.0558855 | intron-variant | AIRE | GRCh38.p7 | 21:44290897 | ATGGCCCCGGGGGGT[-/G]TCTGTTGGAGACCAG | 326 |
rs141226179 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285651 | GAGTTCTCTGAGTCC[C/T]GCACAGAGCGAGTCT | 326 |
rs141480813 | snp | A/T | 6.79579e-05 | 0.00582875 | missense | AIRE | GRCh38.p7 | 21:44289752 | AAGGCCCGCAGCAGC[A/T]GTGGCCCGAAGCCTC | 326 |
rs141818563 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44292526 | GACAGGACTGCCCCA[A/G]CCATAGCACTATGTC | 326 |
rs141827205 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44292215 | TGAAAAGACATGGTC[A/G]GAGCCCTGGAGCTCC | 326 |
rs141842879 | snp | C/T | 0.00199489 | 0.0315193 | intron-variant | AIRE | GRCh38.p7 | 21:44290112 | CTGTCTGCCCTTGCT[C/T]CCCTCGGGTGGGTCC | 326 |
rs141908097 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288051 | TACAGGGCCCATGTC[A/T]TGGGGGGGTGGGTCT | 326 |
rs141955483 | snp | A/G | 8.30406e-05 | 0.00644309 | intron-variant | AIRE | GRCh38.p7 | 21:44291088 | GGGCGTCTCTTGCCT[A/G]TGCCAGAAGAATGAG | 326 |
rs142286875 | snp | A/G | 0.000235085 | 0.0108391 | missense | AIRE | GRCh38.p7 | 21:44289722 | AAGTTCGAAGACTCC[A/G]GCAGTGGGAAGAACA | 326 |
rs142297552 | snp | G/T | 1.65748e-05 | 0.00287874 | intron-variant | AIRE | GRCh38.p7 | 21:44291010 | CCAGAGATGCTGCTG[G/T]GGGAGCTGTTTTGGG | 326 |
rs142366324 | snp | C/T | 0.0014159 | 0.0265697 | missense | AIRE | GRCh38.p7 | 21:44293096 | AGCACCTGCCGGCTC[C/T]GCCTTCTGCAGCCCC | 326 |
rs142441083 | snp | A/G | 0.00557542 | 0.0525036 | intron-variant | AIRE | GRCh38.p7 | 21:44289326 | ACAGCTGTCTCCCAC[A/G]TGTCCTCTTTATAAG | 326 |
rs142503647 | snp | C/T | 0.00021023 | 0.0102504 | intron-variant | AIRE | GRCh38.p7 | 21:44291259 | ACCCCGGTTCACGGC[C/T]GCCTCCACCCACTGA | 326 |
rs142507016 | snp | A/C | 0.00835141 | 0.0640778 | intron-variant | AIRE | GRCh38.p7 | 21:44287822 | ACCCTGGTTCTGGGA[A/C]CCCCTTCTCAGGCAC | 326 |
rs142762696 | in-del | -/T | 0.00993419 | 0.0697739 | intron-variant | AIRE | GRCh38.p7 | 21:44295641 | TCGTGATGTGAAATG[-/T]TAACGCCATGTCAGA | 326 |
rs142788946 | snp | G/T | 0.000398714 | 0.0141137 | AIRE | 21 | allele_origin=G(germline)/T(germline) | 21:44287012 | CCGGAAGGGGAGGAA[G/T]CCCCCGGCCGTCCCC | 326 |
rs143059175 | snp | A/G | 6.95592e-05 | 0.00589701 | missense | AIRE | GRCh38.p7 | 21:44293861 | TGTACTCACTGCGCC[A/G]CTGCCTTCCACTGGC | 326 |
rs143146599 | snp | A/G | 8.28947e-05 | 0.00643743 | missense | AIRE | GRCh38.p7 | 21:44292358 | AGGAGGTGCAGCCCC[A/G]GGCAGAGGAGCCCCG | 326 |
rs143382681 | snp | C/T | 0.0115144 | 0.0749975 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285506 | GGCCACTGGGAGGGG[C/T]CGGTGCACCCTGGGC | 326 |
rs143442916 | snp | C/T | 0.0126979 | 0.078662 | intron-variant | AIRE | GRCh38.p7 | 21:44294626 | AGGGCTTGCACCAGA[C/T]GCACTGACCATGTGC | 326 |
rs143522755 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | AIRE | GRCh38.p7 | 21:44288682 | GGTCCAGGCCCACAT[C/T]CCCACCCGGGATGTA | 326 |
rs143660392 | snp | A/G | | | missense | AIRE | GRCh38.p7 | 21:44293002 | TTCCAGCTCCCCCCG[A/G]GGCTTAGGTCGGCGG | 326 |
rs143784684 | snp | C/G/T | 0.000149835 | 0.00865429 | synonymous-codon | AIRE | GRCh38.p7 | 21:44288421 | GGGAGCCCGAGGGGC[C/G/T]GTGGAGGGGATCCTC | 326 |
rs143821018 | snp | C/T | 3.32962e-05 | 0.00408007 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286646 | GGACTCCACAGCCAT[C/T]CTGGACTTCTGGAGG | 326 |
rs143833964 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44290199 | ACCCACAGGGTACAG[C/T]TCTTTTTCTTTAATA | 326 |
rs143952576 | snp | C/T | 8.31622e-05 | 0.0064478 | missense | AIRE | GRCh38.p7 | 21:44288366 | AGACCATGTCAGCTT[C/T]AGTCCAGAGAGCTGT | 326 |
rs144359012 | snp | A/G | 0.00107732 | 0.023184 | AIRE | 21 | allele_origin=G(germline)/A(germline) | 21:44293806 | CCTGGCTCCTGGTGC[A/G]CGTTGCGGGGTGTGC | 326 |
rs144396624 | snp | A/G | 0.000117832 | 0.00767478 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286580 | TCATCTGAAGGAAAA[A/G]GAGGGCTGCCCCCAG | 326 |
rs144700293 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | AIRE | GRCh38.p7 | 21:44295072 | TGGGTGTGGGGGAGG[C/T]CCGAGTCGCTGCTGC | 326 |
rs144765211 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291508 | CCAGGCTGCAGCCCA[C/T]GCCCCCATGGGTAGC | 326 |
rs144821473 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44289514 | CCCGGGCCCCAGACT[C/T]GACTGGGGTGGGGGC | 326 |
rs145229178 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289026 | TCGGTGCTGGACATG[A/G]GCTGGGAACACCAAG | 326 |
rs145243072 | snp | C/T | 0.000153988 | 0.00877328 | missense | AIRE | GRCh38.p7 | 21:44293039 | AGGTAAGAGGTCCAC[C/T]TGGGGAACCCCTAGC | 326 |
rs145255118 | snp | A/G | 0.000218042 | 0.010439 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289709 | CTACACTCCCAGCAA[A/G]TTCGAAGACTCCGGC | 326 |
rs145274715 | snp | A/G | 1.69648e-05 | 0.00291241 | synonymous-codon | AIRE | GRCh38.p7 | 21:44291163 | TGACGGCTGCCCTCG[A/G]GCCTTCCACCTGGCC | 326 |
rs145280112 | snp | G/T | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298416 | GTCTTATTTTACTCA[G/T]CATGGTGGCCCCAAG | 326 |
rs145284511 | snp | A/C/T | 0.000633085 | 0.0177806 | intron-variant | AIRE | GRCh38.p7 | 21:44290861 | CAGCCTGCAAGAAAC[A/C/T]GGGTTTTCTTCCCAA | 326 |
rs145370269 | snp | A/G | 0.00558627 | 0.0525541 | missense | AIRE | GRCh38.p7 | 21:44296386 | ACTGGGTTCCAGGAT[A/G]ACACTGCCAGTCACG | 326 |
rs145386437 | snp | A/G | 0.00420628 | 0.0456667 | intron-variant | AIRE | GRCh38.p7 | 21:44293752 | AGCTACATTTCCCCC[A/G]GCCCCCCGCGTCACC | 326 |
rs145732243 | snp | A/G | 0.00181105 | 0.0300374 | missense | AIRE | GRCh38.p7 | 21:44287574 | GCGCAGAGCAGCAGC[A/G]CCTTCCACTCGGGAA | 326 |
rs146020455 | snp | C/G | 0.0115144 | 0.0749975 | intron-variant | AIRE | GRCh38.p7 | 21:44287404 | AGAGCCCGGCAAAGG[C/G]ACTACCCAGCACTGG | 326 |
rs146377356 | snp | A/C/T | 0.000168584 | 0.00917963 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289658 | GCATCTCCTCCCAGG[A/C/T]GGCTCCAAGAAGTGC | 326 |
rs146415447 | snp | A/C | 0.00398564 | 0.0444627 | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298162 | ACAAAAAAACCACAT[A/C]ACATAAATTTATCAT | 326 |
rs146517804 | in-del | -/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44290451 | GGGTAGAAGCAGTGT[-/G]GGGGGGTGCCTGCCG | 326 |
rs146792143 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44287849 | GCACCTTCTCTGCCC[A/G]TCCACTCCCTATCCT | 326 |
rs146810389 | snp | A/G/T | 0.000166429 | 0.00912079 | missense | AIRE | GRCh38.p7 | 21:44286650 | TCCACAGCCATCCTG[A/G/T]ACTTCTGGAGGGTGC | 326 |
rs146992760 | snp | A/G | 0.00119332 | 0.0243974 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287563 | GCCGGAGAGCAGCGC[A/G]GAGCAGCAGCGCCTT | 326 |
rs147141429 | snp | C/T | 0.0115144 | 0.0749975 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285527 | CACCCTGGGCAGCCC[C/T]TGCCAGGGCCCTGAG | 326 |
rs147475096 | snp | C/T | 0.00914312 | 0.0669923 | intron-variant | AIRE | GRCh38.p7 | 21:44295978 | CTGCCTGGGGACCTT[C/T]TCCCACTCTGGTCGC | 326 |
rs147485628 | snp | C/T | 0.000372212 | 0.013637 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293893 | CTGCCACTTCCCAGC[C/T]GGCACCTCCCGGCCC | 326 |
rs147846074 | snp | C/T | 0.000399281 | 0.0141238 | missense | AIRE | GRCh38.p7 | 21:44289743 | GGGAAGAACAAGGCC[C/T]GCAGCAGCAGTGGCC | 326 |
rs147889221 | snp | C/T | 0.000101331 | 0.00711724 | synonymous-codon | AIRE | GRCh38.p7 | 21:44291151 | GCTCATCTGCTGTGA[C/T]GGCTGCCCTCGGGCC | 326 |
rs147924524 | snp | A/C | 0.0236746 | 0.106192 | intron-variant | AIRE | GRCh38.p7 | 21:44293394 | CATTACTGCTCCCCC[A/C]ACAAGGCAGGACAAT | 326 |
rs148012328 | snp | A/G | 0.000216092 | 0.0103923 | missense | AIRE | GRCh38.p7 | 21:44288395 | GTGGCCATGTCCTCC[A/G]GGGACGTCCCGGGAG | 326 |
rs148219729 | snp | C/T | 0.00279162 | 0.0372561 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285623 | GGCAGGACAGGGCCA[C/T]ATTCGGAAGTGAGAG | 326 |
rs148485568 | snp | A/T | 0.00318978 | 0.0398085 | intron-variant | AIRE | GRCh38.p7 | 21:44292489 | ACCCCCTCCTGTCCG[A/T]CTGTCCCCTGGAGTC | 326 |
rs148951868 | snp | C/T | 0.00230023 | 0.0338353 | intron-variant | AIRE | GRCh38.p7 | 21:44287613 | GGGGCCCAGTGGGAG[C/T]GCCTCCCTTCTCCCT | 326 |
rs149078622 | snp | C/T | 0.000409417 | 0.0143018 | missense | AIRE | GRCh38.p7 | 21:44292357 | CAGGAGGTGCAGCCC[C/T]GGGCAGAGGAGCCCC | 326 |
rs149130190 | snp | C/T | 0.00226428 | 0.033571 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289721 | CAAGTTCGAAGACTC[C/T]GGCAGTGGGAAGAAC | 326 |
rs149214218 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284409 | CAGGCTGACCACCTC[A/G]GCCACCACCTCTGGC | 326 |
rs149219862 | snp | C/G | 0.0053908 | 0.0516366 | intron-variant | AIRE | GRCh38.p7 | 21:44294538 | TCCATGCATGCCGGT[C/G]CTGGGGGTGGGGAAC | 326 |
rs149266298 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44288131 | CCACCCCCCAGCACA[C/T]GCACACTTGGGTGCA | 326 |
rs149547427 | snp | C/T | 0.00914312 | 0.0669923 | intron-variant | AIRE | GRCh38.p7 | 21:44295512 | CCAGCCGGGCATATA[C/T]GCAGATGCCCCTCCC | 326 |
rs149609996 | snp | A/G | 0.000730211 | 0.0190938 | missense | AIRE | GRCh38.p7 | 21:44293141 | ACTCCTCGGCCCTGC[A/G]CCCCCTACTGTGTGT | 326 |
rs149639526 | in-del | -/TCTG | 0.266819 | 0.249434 | intron-variant | AIRE | GRCh38.p7 | 21:44296942 | GTGACTTTTAAGGGC[-/TCTG]TCTGTTTTTGCCAAG | 326 |
rs149769247 | snp | C/T | 0.000200354 | 0.0100068 | synonymous-codon | AIRE | GRCh38.p7 | 21:44291127 | TGCCGTGTGTCGGGA[C/T]GGCGGGGAGCTCATC | 326 |
rs149860200 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44297439 | CCTGTGCCATGGGGA[C/T]CTTGGGCCTCAGTTT | 326 |
rs149988977 | snp | C/T | 0.0178098 | 0.0926698 | intron-variant | AIRE | GRCh38.p7 | 21:44288930 | ACCAGTGCCATCTGA[C/T]CAGGGCACAGCAGGG | 326 |
rs150141814 | in-del | -/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295894 | AGCTGGGATGTGGCT[-/G]GTTTGGGGCCACAAA | 326 |
rs150352051 | snp | C/T | 0.00597247 | 0.0543191 | intron-variant | AIRE | GRCh38.p7 | 21:44295244 | GCTGTGCCTCCGCCC[C/T]GTATACACCGTGTGG | 326 |
rs150454564 | snp | C/T | 0.0142736 | 0.0832652 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44283941 | AGTGAGCTCTCCCTT[C/T]GTGAGACCCCTGCCC | 326 |
rs150627569 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | AIRE | GRCh38.p7 | 21:44292586 | TCCTGCAGTGGAGTC[C/T]CCATCATGGTTCCTG | 326 |
rs150634562 | snp | A/G | 0.00181381 | 0.0300602 | missense | AIRE | GRCh38.p7 | 21:44291116 | GAGGACGAGTGTGCC[A/G]TGTGTCGGGACGGCG | 326 |
rs150767556 | snp | A/C | 0.0524604 | 0.153226 | utr-variant-5-prime | AIRE | GRCh38.p7 | 21:44285930 | CAGCCCCGCCGGGAC[A/C]CGAGGCCAAGCGAGG | 326 |
rs150819730 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44288781 | AGTTCTGCCTGTGCT[A/G]CTGAGACCCTCCAGG | 326 |
rs151049459 | snp | C/T | 6.93818e-05 | 0.00588949 | missense | AIRE | GRCh38.p7 | 21:44287017 | AGGGGAGGAAGCCCC[C/T]GGCCGTCCCCAAGGC | 326 |
rs151083841 | snp | A/G | 0.00953873 | 0.0683987 | intron-variant | AIRE | GRCh38.p7 | 21:44287726 | TGTGTCATTCCAAGG[A/G]CCTAAGCTGCACCAC | 326 |
rs151102849 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44297074 | TGGCCGTGCCCCACA[C/T]ACCCTGACCGTGCAG | 326 |
rs151123164 | snp | A/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44290218 | TTTTCTTTAATAGAC[A/T]GTATTTTTTTCCTGA | 326 |
rs179363875 | snp | C/T | | | missense | AIRE | GRCh38.p7 | 21:44286049 | CTTCTGAGGCTGCAC[C/T]GCACGGAGATCGCGG | 326 |
rs179363876 | snp | G/T | | | missense | AIRE | GRCh38.p7 | 21:44286050 | TTCTGAGGCTGCACC[G/T]CACGGAGATCGCGGT | 326 |
rs179363877 | snp | C/T | | | missense | AIRE | GRCh38.p7 | 21:44286053 | TGAGGCTGCACCGCA[C/T]GGAGATCGCGGTGGC | 326 |
rs179363878 | snp | C/T | 0.000156165 | 0.00883504 | AIRE | 21 | allele_origin=T(germline)/C(unknown) | 21:44286089 | ACAGCGCCTTCCCAC[C/T]GCTGCACGCGCTGGC | 326 |
rs179363879 | snp | C/T | | | missense | AIRE | GRCh38.p7 | 21:44286092 | GCGCCTTCCCACTGC[C/T]GCACGCGCTGGCTGA | 326 |
rs179363880 | snp | A/C/T | 1.66391e-05 | 0.00288431 | AIRE | 21 | allele_origin=T(germline)/A(unknown)/C(unknown) | 21:44286656 | GCCATCCTGGACTTC[A/C/T]GGAGGGTGCTGTTCA | 326 |
rs179363881 | snp | G/T | | | missense | AIRE | GRCh38.p7 | 21:44286662 | CTGGACTTCTGGAGG[G/T]TGCTGTTCAAGGACT | 326 |
rs179363882 | snp | A/G | | | missense | AIRE | GRCh38.p7 | 21:44286678 | TGCTGTTCAAGGACT[A/G]CAACCTGGAGCGCTA | 326 |
rs179363883 | snp | A/G | | | missense | AIRE | GRCh38.p7 | 21:44286693 | ACAACCTGGAGCGCT[A/G]TGGCCGGCTGCAGCC | 326 |
rs179363884 | snp | C/G/T | 1.66732e-05 | 0.00288727 | AIRE | 21 | allele_origin=G(unknown)/T(germline) | 21:44286702 | AGCGCTATGGCCGGC[C/G/T]GCAGCCCATCCTGGA | 326 |
rs179363885 | snp | A/C/T | | | missense | AIRE | GRCh38.p7 | 21:44291192 | CCTGCCTGTCCCCTC[A/C/T]GCTCCGGGAGATCCC | 326 |
rs179363886 | snp | C/T | | | missense | AIRE | GRCh38.p7 | 21:44286068 | CGGAGATCGCGGTGG[C/T]CGTGGACAGCGCCTT | 326 |
rs179363887 | snp | C/T | | | missense | AIRE | GRCh38.p7 | 21:44286654 | CAGCCATCCTGGACT[C/T]CTGGAGGGTGCTGTT | 326 |
rs179363889 | snp | C/T | 1.6857e-05 | 0.00290314 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44297705 | AGAGCATGGCCCGTC[C/T]GGCGGCCCCCTTCCC | 326 |
rs180838238 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44288751 | CTCCTGGGCCATGGG[C/G]TTGCATCCTTAGAAA | 326 |
rs181029582 | snp | A/G | 0.000458558 | 0.015135 | synonymous-codon | AIRE | GRCh38.p7 | 21:44294437 | CTGCTCAGGAGACGT[A/G]ACCCCAGCCCCTGTG | 326 |
rs181158869 | snp | A/T | 0.00398564 | 0.0444627 | intron-variant | AIRE | GRCh38.p7 | 21:44289115 | CCTAAGGCTGTTGGT[A/T]AAATTGGCACAAACT | 326 |
rs181314786 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44294916 | GGATCCACCCCACTG[C/T]GTGGCCAGAGCCCTC | 326 |
rs181779633 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295565 | AACTGCTCCCGCAGC[A/G]GGTACCTCGTCATTA | 326 |
rs182939593 | snp | A/G | 0.00398564 | 0.0444627 | intron-variant | AIRE | GRCh38.p7 | 21:44292646 | GGTCCACCCCGGGGG[A/G]CACTATGAGCATTGA | 326 |
rs183006982 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | AIRE | GRCh38.p7 | 21:44297197 | TGGAGAAATGAGCGA[C/T]GGGCTCACAGCCTCT | 326 |
rs183262838 | snp | A/C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291837 | CCGTCATCAGGCCCC[A/C/T]TCTCAGCCTTGTGCC | 326 |
rs183699746 | snp | A/C | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285221 | GTCAATGCGAGCCTC[A/C]ATCCCCAGGCGAGTG | 326 |
rs184750175 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | AIRE | GRCh38.p7 | 21:44294721 | AAAGGAAGCTCCCCC[C/T]GAGGGTTGGTGGCTG | 326 |
rs184848378 | snp | C/T | 0.00159617 | 0.0282053 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297910 | GCCTGGAAATTAAAC[C/T]CTGCCCCACTTCTCT | 326 |
rs184978263 | snp | A/C | 0.0123036 | 0.0774623 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285793 | GCGGGAGGCCCTGGC[A/C]CTGATTGGGCGCCGG | 326 |
rs185144089 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288992 | GCATTCCATCTCAAG[C/T]CCCTGACACGGTGTC | 326 |
rs185442462 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44293417 | AGGACAATGAAGGGG[A/G]GGATGTCCCAGCACA | 326 |
rs185459141 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44287889 | GCCTAGACATAGCTT[C/T]CTCCAGAAAATCATC | 326 |
rs185686530 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | AIRE | GRCh38.p7 | 21:44295274 | GGTGACAGGCCACCC[C/T]GGCGTGGTACTCCCC | 326 |
rs186414523 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | AIRE | GRCh38.p7 | 21:44295688 | GCCTTGGCCTCCCCC[C/T]TCAGCCTGCCCCCTT | 326 |
rs186568945 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292104 | ACCCTGATCACGCTG[A/G]CCAGGGCCACCCCAC | 326 |
rs186617493 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44289172 | AACATCGAGGTGTCT[C/T]GGGGCCACACTCCCT | 326 |
rs187156604 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44290355 | CCCGTGGGTGGGCCG[A/G]GCGCCCCTGCTATAG | 326 |
rs187414922 | snp | A/G | 0.00953873 | 0.0683987 | intron-variant | AIRE | GRCh38.p7 | 21:44297243 | TATTCTGCTGGCATC[A/G]TGGGGCCCGTGGCCC | 326 |
rs187537918 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293489 | ACCCCTGTGGGCACC[A/G]CCTTTCAGGAGACTC | 326 |
rs187932741 | snp | A/G | 0.0248432 | 0.108648 | intron-variant | AIRE | GRCh38.p7 | 21:44296694 | CGGGAGCCCAGTGCT[A/G]CTGAGCGCCCCCAGC | 326 |
rs188004485 | snp | A/G | 0.00119737 | 0.0244387 | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298035 | TACATGGGAGCCTGA[A/G]GCATGAGAATCACTT | 326 |
rs188292438 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | AIRE | GRCh38.p7 | 21:44288994 | ATTCCATCTCAAGTC[C/T]CTGACACGGTGTCTC | 326 |
rs188363747 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | AIRE | GRCh38.p7 | 21:44292780 | CCCCCCGTGTGTAGA[C/T]GGGGGAGGAGGGAGG | 326 |
rs189170563 | snp | A/G | 0.000798403 | 0.0199641 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285232 | CCTCAATCCCCAGGC[A/G]AGTGTGCCCCTTTTA | 326 |
rs189626783 | snp | A/G | 0.0138799 | 0.0821421 | intron-variant | AIRE | GRCh38.p7 | 21:44288257 | AGGAAAGGGCTCTGC[A/G]GCCCAGTGCTGCCTG | 326 |
rs189640031 | snp | A/G | 0.0130921 | 0.0798413 | intron-variant | AIRE | GRCh38.p7 | 21:44296534 | CTCTGGGGGAGGACT[A/G]CCGGCCCCCACTGCT | 326 |
rs189784196 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292154 | GCTGGGCTCTCCCTT[C/T]CTGTGTCTCTGCCCA | 326 |
rs190008493 | snp | A/T | 0.00199481 | 0.0315187 | intron-variant | AIRE | GRCh38.p7 | 21:44294884 | GGTTGTCTCACCCCC[A/T]GCCCTCCCTGGGGCC | 326 |
rs190592807 | snp | A/C | 0.00438332 | 0.0466095 | intron-variant | AIRE | GRCh38.p7 | 21:44295529 | CAGATGCCCCTCCCT[A/C]ACCCCAGGCAGCTTT | 326 |
rs190740201 | snp | C/G | 0.00874735 | 0.0655527 | intron-variant | AIRE | GRCh38.p7 | 21:44290734 | TGGGGGCTGCAGGTG[C/G]AGGATTCAGCAGGCG | 326 |
rs191270032 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285277 | GAGGCTCAGAGAAGG[A/G]AAGGACTTGCCTGGC | 326 |
rs191500172 | snp | C/T | 0.00159617 | 0.0282053 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285515 | GAGGGGCCGGTGCAC[C/T]CTGGGCAGCCCCTGC | 326 |
rs191516075 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289249 | GTCATTATGGGGGTA[C/T]CCCTGTGCTCCTTGT | 326 |
rs191966080 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284987 | CACTGTCCCCACTCA[C/T]GTCCACCTGGGACCC | 326 |
rs192215705 | snp | C/T | 0.00616696 | 0.0551856 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44297651 | ACCGTCACTCTGTCC[C/T]GCAGCACACCTTCGA | 326 |
rs192279351 | snp | C/T | 0.0150606 | 0.0854603 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298363 | TCTCCAGGGACCTCA[C/T]GGAAGTGGAATCACA | 326 |
rs192353669 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44293506 | CTTTCAGGAGACTCC[C/T]GCACTCAGCCCCAAA | 326 |
rs192892184 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292847 | CAGTGTGGACGCCTT[C/T]CACCATGCCAGCCCT | 326 |
rs193191445 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | AIRE | GRCh38.p7 | 21:44286304 | GATGACAAGTTAGAA[A/G]TTGGTCCCCTTCCCC | 326 |
rs193922417 | snp | C/T | 0.000467367 | 0.0152796 | AIRE | 21 | allele_origin=T(germline)/C(germline) | 21:44287041 | CCAAGGCTTTGGTAC[C/T]GCCACCCAGACTCCC | 326 |
rs193922418 | snp | A/G | | | missense | AIRE | GRCh38.p7 | 21:44287133 | GGCACCGCCAGCCCA[A/G]GTACCCTCCCTGCAG | 326 |
rs199555518 | snp | A/C/T | 0.000577856 | 0.0169888 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293055 | TGGGGAACCCCTAGC[A/C/T]GGCATGGACACGACT | 326 |
rs199590125 | snp | C/T | 1.74561e-05 | 0.00295428 | intron-variant | AIRE | GRCh38.p7 | 21:44286539 | CATGGCAGGGACCCT[C/T]ATGCCACCCCACTGC | 326 |
rs199599469 | in-del | -/A | | | intron-variant | AIRE | GRCh38.p7 | 21:44297438 | GCCTGTGCCATGGGG[-/A]CCTTGGGCCTCAGTT | 326 |
rs199612115 | snp | G/T | 0.00011753 | 0.00766492 | splice-donor-variant | AIRE | GRCh38.p7 | 21:44288459 | AGGTGTTTGAGTCAG[G/T]TAGACGCTGTGGCGG | 326 |
rs199621393 | snp | C/T | 0.000399281 | 0.0141238 | missense | AIRE | GRCh38.p7 | 21:44293143 | TCCTCGGCCCTGCAC[C/T]CCCTACTGTGTGTGG | 326 |
rs199684124 | snp | C/T | 6.67468e-05 | 0.00577658 | intron-variant | AIRE | GRCh38.p7 | 21:44296450 | TTCTGAGCGAGGTAA[C/T]GCCTCCCCTGGCCTC | 326 |
rs199721573 | snp | A/G | 1.763e-05 | 0.00296895 | intron-variant | AIRE | GRCh38.p7 | 21:44289849 | CTCTTGATGCCCCCC[A/G]CCCCAGGAACAGCGT | 326 |
rs199774882 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44287754 | CACCAGACCCAGGAA[A/G]GGGACACCTTGGGTC | 326 |
rs199919660 | snp | A/G | 7.099e-05 | 0.00595734 | intron-variant | AIRE | GRCh38.p7 | 21:44290760 | AGGCGCTGAGGTCGG[A/G]AGAGACCTCCCTGGG | 326 |
rs199996043 | snp | A/C/T | 5.21067e-05 | 0.00510403 | intron-variant | AIRE | GRCh38.p7 | 21:44292979 | CCCCTCTGATGCTGA[A/C/T]CCTTGGGTTCCAGCT | 326 |
rs200023541 | snp | C/T | 0.000601854 | 0.0173368 | intron-variant | AIRE | GRCh38.p7 | 21:44287178 | GGTCTCCAGTCTTCC[C/T]GGGCTTCCCCGGGAG | 326 |
rs200261323 | snp | A/G | 0.000183298 | 0.0095716 | intron-variant | AIRE | GRCh38.p7 | 21:44288325 | CCACGGGTGACCCCA[A/G]TGGGTGTTCCCTTTC | 326 |
rs200359179 | snp | A/G | 3.32856e-05 | 0.00407942 | missense | AIRE | GRCh38.p7 | 21:44288414 | ACGTCCCGGGAGCCC[A/G]AGGGGCCGTGGAGGG | 326 |
rs200377867 | snp | A/G | 0.000142103 | 0.00842802 | missense | AIRE | GRCh38.p7 | 21:44287127 | CCAAGGGGCACCGCC[A/G]GCCCAGGTACCCTCC | 326 |
rs200437331 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44290836 | CAGTTCCGGGGCCCC[C/T]GGAACGCAGCAGCCT | 326 |
rs200540137 | snp | C/T | | | missense | AIRE | GRCh38.p7 | 21:44292375 | GCAGAGGAGCCCCGG[C/T]CCCAGGAGCCACCCG | 326 |
rs200611273 | snp | C/T | 3.36038e-05 | 0.00409888 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289676 | CTCCAAGAAGTGCAT[C/T]CAGGTTGGCGGGGAG | 326 |
rs200679646 | snp | G/T | 0.000399281 | 0.0141238 | missense | AIRE | GRCh38.p7 | 21:44293125 | CCGCTGCCAGGGCTG[G/T]ACTCCTCGGCCCTGC | 326 |
rs200735043 | snp | A/C | 3.33845e-05 | 0.00408548 | intron-variant | AIRE | GRCh38.p7 | 21:44296456 | GCGAGGTAACGCCTC[A/C]CCTGGCCTCCTGGTG | 326 |
rs200741288 | snp | A/C/G/T | 0.00117041 | 0.024167 | intron-variant | AIRE | GRCh38.p7 | 21:44291248 | GCAACCAGGCCACCC[A/C/G/T]GGTTCACGGCCGCCT | 326 |
rs200899780 | snp | A/G | 0.000169874 | 0.00921456 | missense | AIRE | GRCh38.p7 | 21:44287591 | CTTCCACTCGGGAAC[A/G]GTGAGCGGGGCCCAG | 326 |
rs200955183 | snp | C/G | 0.000117342 | 0.00765881 | missense | AIRE | GRCh38.p7 | 21:44286593 | AAGGAGGGCTGCCCC[C/G]AGGCCTTCCACGCCC | 326 |
rs201010030 | snp | C/T | 0.00118057 | 0.0242671 | synonymous-codon | AIRE | GRCh38.p7 | 21:44292389 | GCCCCAGGAGCCACC[C/T]GTGGAGACCCCGGTA | 326 |
rs201118942 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44290672 | GTGGTACCTGGGAGA[-/C]CCCCTGAAGGCACAG | 326 |
rs201131119 | snp | C/T | 0.000224787 | 0.0105992 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293854 | GCTGCGGTGTACTCA[C/T]TGCGCCGCTGCCTTC | 326 |
rs201171818 | snp | C/T | 1.71761e-05 | 0.00293049 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289799 | AGCCCAGGGCGCTGC[C/T]CCCGTAAGCACCTGA | 326 |
rs201232767 | snp | C/T | 0.000585158 | 0.0170949 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297765 | GCTCTGATGAGAGAG[C/T]GCTGAGAAGGACACC | 326 |
rs201239095 | snp | C/G | 5.593e-05 | 0.0052879 | intron-variant | AIRE | GRCh38.p7 | 21:44293938 | GGTCGGCGGGGAGGC[C/G]TGAACCCACACCCAC | 326 |
rs201414491 | snp | C/T | 3.41256e-05 | 0.00413057 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297746 | CAGATGGCCGGGACA[C/T]GCAGCTCTGATGAGA | 326 |
rs201491251 | snp | C/T | 0.000375856 | 0.0137035 | missense | AIRE | GRCh38.p7 | 21:44293066 | TAGCCGGCATGGACA[C/T]GACTCTTGTCTACAA | 326 |
rs201491414 | snp | C/T | 1.69942e-05 | 0.00291493 | intron-variant | AIRE | GRCh38.p7 | 21:44289631 | GCTGGGCGGGTGAGC[C/T]AGGACCAGCCGGCAT | 326 |
rs201551372 | snp | C/T | 0.00503498 | 0.0499213 | synonymous-codon | AIRE | GRCh38.p7 | 21:44292371 | CCGGGCAGAGGAGCC[C/T]CGGCCCCAGGAGCCA | 326 |
rs201591958 | snp | C/T | 0.000284283 | 0.0119189 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286604 | CCCCCAGGCCTTCCA[C/T]GCCCTCCTGTCCTGG | 326 |
rs201602355 | snp | A/G | 1.66696e-05 | 0.00288696 | missense | AIRE | GRCh38.p7 | 21:44296395 | CAGGATGACACTGCC[A/G]GTCACGAGCCCGCTC | 326 |
rs201650973 | snp | C/G | 0.000249441 | 0.011165 | synonymous-codon | AIRE | GRCh38.p7 | 21:44288370 | CATGTCAGCTTCAGT[C/G]CAGAGAGCTGTGGCC | 326 |
rs201667085 | snp | C/G | 0.00199792 | 0.0315431 | missense | AIRE | GRCh38.p7 | 21:44289680 | AAGAAGTGCATCCAG[C/G]TTGGCGGGGAGTTCT | 326 |
rs201720315 | snp | C/T | 8.40301e-05 | 0.00648136 | intron-variant | AIRE | GRCh38.p7 | 21:44290817 | GGTTCATGTGGTTGG[C/T]GTACAGTTCCGGGGC | 326 |
rs201929488 | snp | C/T | 0.000207979 | 0.0101954 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287021 | GAGGAAGCCCCCGGC[C/T]GTCCCCAAGGCTTTG | 326 |
rs201945690 | snp | A/G | 0.000359198 | 0.0133966 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293833 | GTGCGGAGATGGTAC[A/G]GACGTGCTGCGGTGT | 326 |
rs201965760 | snp | C/G | 0.00146048 | 0.0269835 | missense | AIRE | GRCh38.p7 | 21:44287086 | CCTCAGAAGAGGCTC[C/G]AGCTGCCGCGCCAGC | 326 |
rs202000638 | snp | C/T | 0.000660307 | 0.0181581 | intron-variant | AIRE | GRCh38.p7 | 21:44290782 | CTCCCTGGGCCTGGC[C/T]CCACTGCCCTGTGAG | 326 |
rs202011489 | snp | A/G | 3.47741e-05 | 0.00416964 | intron-variant | AIRE | GRCh38.p7 | 21:44286542 | GGCAGGGACCCTCAT[A/G]CCACCCCACTGCAGG | 326 |
rs202018301 | snp | A/C/G | 0.000161148 | 0.00897511 | missense | AIRE | GRCh38.p7 | 21:44293909 | GGCACCTCCCGGCCC[A/C/G]GGTGAGTGAGCGTGG | 326 |
rs202027254 | snp | A/G | 6.78541e-05 | 0.0058243 | missense | AIRE | GRCh38.p7 | 21:44291162 | GTGACGGCTGCCCTC[A/G]GGCCTTCCACCTGGC | 326 |
rs202083125 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293751 | CAGCTACATTTCCCC[C/T]GGCCCCCCGCGTCAC | 326 |
rs202237214 | snp | C/T | 0.000239365 | 0.0109373 | missense | AIRE | GRCh38.p7 | 21:44293012 | CCCCGGGGCTTAGGT[C/T]GGCGGGAGAGGAGGT | 326 |
rs267606152 | snp | C/T | 5.74333e-05 | 0.00535848 | AIRE | 21 | allele_origin=T(somatic)/C(germline) | 21:44290044 | CGCCCCTCTGGCCCT[C/T]CCCAGTGACCCCCAG | 326 |
rs267606153 | snp | A/G | 0.000399281 | 0.0141238 | AIRE | 21 | allele_origin=G(germline)/A(somatic) | 21:44290644 | CCTGGCTGTCTGGGG[A/G]GATTCTGGAGGAAGT | 326 |
rs267606154 | snp | A/G | 8.50774e-05 | 0.00652162 | AIRE | 21 | allele_origin=G(germline)/A(somatic) | 21:44293134 | GGGCTGGACTCCTCG[A/G]CCCTGCACCCCCTAC | 326 |
rs267606642 | snp | G/T | | | missense | AIRE | GRCh38.p7 | 21:44286663 | TGGACTTCTGGAGGG[G/T]GCTGTTCAAGGACTA | 326 |
rs367559599 | snp | C/G | | | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44298007 | TGTGGTGGTGGGTGC[C/G]TGTAATCCCAGCTAC | 326 |
rs367619299 | snp | C/T | 0.000259594 | 0.0113899 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293857 | GCGGTGTACTCACTG[C/T]GCCGCTGCCTTCCAC | 326 |
rs367777179 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296315 | CGCGGCCCCTAGGCC[C/G]TGCGGCCTCTGTACC | 326 |
rs367965285 | snp | A/G | 0.000153988 | 0.00877328 | intron-variant | AIRE | GRCh38.p7 | 21:44286742 | CAAAGGTGGGTCCTG[A/G]TGGACTCAGCCATGC | 326 |
rs367966318 | snp | A/G | 0.000571265 | 0.016891 | missense | AIRE | GRCh38.p7 | 21:44294450 | GTGACCCCAGCCCCT[A/G]TGGAGGGGGTGCTGG | 326 |
rs368217312 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44292558 | CCCATGCCCAAGCCC[A/G]GTCCTTGTGGTCTCC | 326 |
rs368331265 | snp | C/T | 0.000334071 | 0.0129199 | missense | AIRE | GRCh38.p7 | 21:44293132 | CAGGGCTGGACTCCT[C/T]GGCCCTGCACCCCCT | 326 |
rs368366778 | snp | A/C | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285339 | GGAGCTCCCTGGCAA[A/C]ACCCAGGCTGCCGTA | 326 |
rs368373038 | snp | C/T | 7.38144e-05 | 0.00607468 | intron-variant | AIRE | GRCh38.p7 | 21:44293929 | AGTGAGCGTGGTCGG[C/T]GGGGAGGCCTGAACC | 326 |
rs368374287 | snp | C/T | 8.46532e-05 | 0.00650534 | intron-variant | AIRE | GRCh38.p7 | 21:44289641 | TGAGCCAGGACCAGC[C/T]GGCATCTCCTCCCAG | 326 |
rs368561485 | snp | G/T | 0.00138858 | 0.0263127 | intron-variant | AIRE | GRCh38.p7 | 21:44287164 | GGGAAGCCAGCCAGG[G/T]TCTCCAGTCTTCCCG | 326 |
rs368752311 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285507 | GCCACTGGGAGGGGC[C/T]GGTGCACCCTGGGCA | 326 |
rs368801958 | snp | A/G | 1.70246e-05 | 0.00291754 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297740 | TGACCCCAGATGGCC[A/G]GGACATGCAGCTCTG | 326 |
rs368861261 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44297416 | ACAGGACAGGGTCCT[C/T]GGTCTGGCCTGTGCC | 326 |
rs369022954 | snp | C/G | 0.000113449 | 0.00753073 | intron-variant | AIRE | GRCh38.p7 | 21:44287641 | CCTGGCCAGGGGCAA[C/G]GGGTCAGGGGTCAGA | 326 |
rs369035241 | snp | C/G/T | 0.000100401 | 0.00708466 | intron-variant | AIRE | GRCh38.p7 | 21:44290832 | TGTACAGTTCCGGGG[C/G/T]CCCTGGAACGCAGCA | 326 |
rs369073373 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44288161 | ACACACGAACACACA[C/T]ATTCTCATGTCTCTG | 326 |
rs369136366 | snp | A/G | 0.000696646 | 0.0186504 | intron-variant | AIRE | GRCh38.p7 | 21:44293770 | CCCCCGCGTCACCCC[A/G]CGCTGTTGCCTCCCA | 326 |
rs369186586 | snp | C/T | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298677 | TTTTTGAAGAACTGC[C/T]ATCCTGTTTTCCACA | 326 |
rs369232026 | snp | A/G | 1.67019e-05 | 0.00288975 | missense | AIRE | GRCh38.p7 | 21:44288446 | ATCCTCATCCAGCAG[A/G]TGTTTGAGTCAGGTA | 326 |
rs369378190 | snp | A/C | 0.000153988 | 0.00877328 | intron-variant | AIRE | GRCh38.p7 | 21:44286529 | TGTGGGGGACCATGG[A/C]AGGGACCCTCATGCC | 326 |
rs369418977 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289916 | CTGCTGCCGAGAGAC[A/G]CCTGGTGCCACAGCC | 326 |
rs369541283 | snp | A/C | 3.32469e-05 | 0.00407705 | missense | AIRE | GRCh38.p7 | 21:44288393 | CTGTGGCCATGTCCT[A/C]CGGGGACGTCCCGGG | 326 |
rs369566870 | snp | C/T | 8.90496e-05 | 0.0066721 | intron-variant | AIRE | GRCh38.p7 | 21:44292947 | ACTCCTGGGTGGTGC[C/T]GGGCAGGCGCCCGCT | 326 |
rs369617029 | snp | A/G | 1.75213e-05 | 0.00295978 | intron-variant | AIRE | GRCh38.p7 | 21:44289839 | GGGAGCCTGGCTCTT[A/G]ATGCCCCCCGCCCCA | 326 |
rs369668737 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44286856 | TTCCAGGACCGTCTT[A/G]GATCCTAAGAGGCAA | 326 |
rs369755644 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44297528 | TGTGCCATGGGGCCT[C/T]GGGCCTCAGTTTCCC | 326 |
rs369777567 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44290563 | CCCTGCAGGAGCACC[C/T]GGGCTGGTGGGCGTC | 326 |
rs369810277 | snp | C/T | 1.65773e-05 | 0.00287895 | intron-variant | AIRE | GRCh38.p7 | 21:44290944 | TGGTCAGGGCAGAAT[C/T]TCAGGCCCTGGCAGC | 326 |
rs370007090 | snp | A/G/T | 6.6165e-05 | 0.00575142 | intron-variant | AIRE | GRCh38.p7 | 21:44290103 | GAGAGGCCCCTGTCT[A/G/T]CCCTTGCTCCCCTCG | 326 |
rs370017667 | snp | A/G | 0.000153988 | 0.00877328 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293839 | AGATGGTACGGACGT[A/G]CTGCGGTGTACTCAC | 326 |
rs370070250 | snp | C/T | 5.34231e-05 | 0.00516804 | missense | AIRE | GRCh38.p7 | 21:44293903 | CCAGCCGGCACCTCC[C/T]GGCCCGGGTGAGTGA | 326 |
rs370382295 | snp | C/T | 5.00321e-05 | 0.00500135 | intron-variant | AIRE | GRCh38.p7 | 21:44296365 | TTGGGCTGACCTCTT[C/T]TCTTTACTGGGTTCC | 326 |
rs370599883 | snp | A/G | 1.7327e-05 | 0.00294333 | missense | AIRE | GRCh38.p7 | 21:44287022 | AGGAAGCCCCCGGCC[A/G]TCCCCAAGGCTTTGG | 326 |
rs370780120 | snp | C/T | 0.000399281 | 0.0141238 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298456 | TGTTGTAGCATGTGC[C/T]GAAATCTGCTTCCTT | 326 |
rs370821895 | snp | C/T | 0.000272541 | 0.0116703 | missense | AIRE | GRCh38.p7 | 21:44292370 | CCCGGGCAGAGGAGC[C/T]CCGGCCCCAGGAGCC | 326 |
rs370834484 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285442 | CTCAGCTTGTGTGGA[A/G]GTCCCCCAGGAACAC | 326 |
rs370957299 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44292474 | CTCCTAGGCTGGGCC[A/C]CCCCCTCCTGTCCGT | 326 |
rs370969296 | snp | C/T | 5.12728e-05 | 0.00506298 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293812 | TCCTGGTGCGCGTTG[C/T]GGGGTGTGCGGAGAT | 326 |
rs371017659 | snp | C/G | 1.69614e-05 | 0.00291211 | intron-variant | AIRE | GRCh38.p7 | 21:44286768 | CATGCTGGGGGCCTG[C/G]GGCAGCTGCTGTCAC | 326 |
rs371094356 | snp | A/G | 5.07498e-05 | 0.0050371 | intron-variant | AIRE | GRCh38.p7 | 21:44289642 | GAGCCAGGACCAGCC[A/G]GCATCTCCTCCCAGG | 326 |
rs371136111 | snp | C/T | 0.0110054 | 0.0733591 | intron-variant | AIRE | GRCh38.p7 | 21:44294390 | TGGCAGCCCCTCATC[C/T]TCTGCTGCAGGACGG | 326 |
rs371165781 | snp | A/G | 8.95632e-05 | 0.00669131 | intron-variant | AIRE | GRCh38.p7 | 21:44287154 | CTCCCTGCAGGGGAA[A/G]CCAGCCAGGGTCTCC | 326 |
rs371186900 | snp | C/T | 3.45274e-05 | 0.00415482 | intron-variant | AIRE | GRCh38.p7 | 21:44293780 | ACCCCGCGCTGTTGC[C/T]TCCCACAGAACCTGG | 326 |
rs371261233 | snp | G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44293777 | GTCACCCCGCGCTGT[G/T]GCCTCCCACAGAACC | 326 |
rs371261300 | snp | A/C | 0.00199481 | 0.0315187 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285627 | GGACAGGGCCACATT[A/C]GGAAGTGAGAGTTCT | 326 |
rs371283816 | snp | A/G/T | 0.000752162 | 0.0193782 | intron-variant | AIRE | GRCh38.p7 | 21:44293187 | GCAGGTGAGCGGGGA[A/G/T]TGGGGGTCAGGGTGG | 326 |
rs371509991 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44295693 | GGCCTCCCCCCTCAG[A/C]CTGCCCCCTTCCTCC | 326 |
rs371604038 | snp | A/G | 0.000155988 | 0.00883004 | intron-variant | AIRE | GRCh38.p7 | 21:44292275 | TGTCTTGTTCTGCAT[A/G]TCTCTGACTGGTGGA | 326 |
rs371629103 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44286324 | TCCCCTTCCCCCAGC[C/T]GTCCCCACACCTCAC | 326 |
rs371796437 | snp | C/T | 0.00440778 | 0.0467382 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286069 | GGAGATCGCGGTGGC[C/T]GTGGACAGCGCCTTC | 326 |
rs371826805 | snp | A/G | 0.000141731 | 0.00841697 | intron-variant | AIRE | GRCh38.p7 | 21:44292956 | TGGTGCCGGGCAGGC[A/G]CCCGCTGCCCCTCTG | 326 |
rs371847563 | snp | C/T | 0.000209293 | 0.0102275 | intron-variant | AIRE | GRCh38.p7 | 21:44287597 | CTCGGGAACGGTGAG[C/T]GGGGCCCAGTGGGAG | 326 |
rs371876095 | snp | A/G | 0.000171013 | 0.0092454 | missense | AIRE | GRCh38.p7 | 21:44294435 | TCCTGCTCAGGAGAC[A/G]TGACCCCAGCCCCTG | 326 |
rs371890744 | snp | A/G | 0.000151427 | 0.00870004 | intron-variant | AIRE | GRCh38.p7 | 21:44286744 | AAGGTGGGTCCTGGT[A/G]GACTCAGCCATGCTG | 326 |
rs372011129 | snp | A/G | 1.65745e-05 | 0.00287871 | intron-variant | AIRE | GRCh38.p7 | 21:44291029 | AGCTGTTTTGGGAAG[A/G]AGGTGGCTCTCAGGA | 326 |
rs372099368 | snp | A/G | 0.000153988 | 0.00877328 | intron-variant | AIRE | GRCh38.p7 | 21:44297652 | CCGTCACTCTGTCCC[A/G]CAGCACACCTTCGAT | 326 |
rs372108131 | snp | C/T | 0.000461069 | 0.0151764 | intron-variant | AIRE | GRCh38.p7 | 21:44297638 | CCTGGAGGTTCTCAC[C/T]GTCACTCTGTCCCGC | 326 |
rs372109674 | snp | A/C | 0.000121075 | 0.00777964 | intron-variant | AIRE | GRCh38.p7 | 21:44286546 | GGGACCCTCATGCCA[A/C]CCCACTGCAGGAGAC | 326 |
rs372131123 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44293422 | AATGAAGGGGGGGAT[A/G]TCCCAGCACACGTGG | 326 |
rs372135453 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292842 | CCACTCAGTGTGGAC[A/G]CCTTCCACCATGCCA | 326 |
rs372169498 | snp | A/G | 0.00020006 | 0.0099995 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287551 | GCCCCCCAAGAAGCC[A/G]GAGAGCAGCGCAGAG | 326 |
rs372219460 | snp | A/G | 5.06069e-05 | 0.00503 | synonymous-codon | AIRE | GRCh38.p7 | 21:44297709 | CATGGCCCGTCCGGC[A/G]GCCCCCTTCCCCTCC | 326 |
rs372241632 | snp | C/T | 3.32723e-05 | 0.00407861 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286682 | GTTCAAGGACTACAA[C/T]CTGGAGCGCTATGGC | 326 |
rs372277949 | snp | C/T | 0.001943 | 0.0311083 | intron-variant | AIRE | GRCh38.p7 | 21:44293920 | GCCCGGGTGAGTGAG[C/T]GTGGTCGGCGGGGAG | 326 |
rs372339585 | snp | C/T | 8.33354e-05 | 0.00645451 | intron-variant | AIRE | GRCh38.p7 | 21:44288323 | CCCCACGGGTGACCC[C/T]AATGGGTGTTCCCTT | 326 |
rs372582924 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44288819 | ATTCTTCAACCAGGA[-/C]CAGCCTGTAGCATAG | 326 |
rs372604287 | snp | A/G/T | 3.34426e-05 | 0.00408903 | missense | AIRE | GRCh38.p7 | 21:44286605 | CCCCAGGCCTTCCAC[A/G/T]CCCTCCTGTCCTGGC | 326 |
rs372612211 | snp | C/T | 0.00067214 | 0.0183199 | intron-variant | AIRE | GRCh38.p7 | 21:44293181 | GGGTCAGCAGGTGAG[C/T]GGGGAGTGGGGGTCA | 326 |
rs372819974 | snp | C/T | 2.0029e-05 | 0.00316451 | synonymous-codon | AIRE | GRCh38.p7 | 21:44290006 | GGAGGTGAGGCTAGG[C/T]TGGGCCAGCAGGGCA | 326 |
rs372856026 | snp | G/T | 1.76758e-05 | 0.00297281 | intron-variant | AIRE | GRCh38.p7 | 21:44291213 | GGGAGATCCCCAGGT[G/T]AGCCTGCACCTCTGC | 326 |
rs372895437 | snp | C/T | 3.40263e-05 | 0.00412456 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293058 | GGAACCCCTAGCCGG[C/T]ATGGACACGACTCTT | 326 |
rs372932833 | snp | C/T | 0.000132494 | 0.00813815 | intron-variant | AIRE | GRCh38.p7 | 21:44292411 | ACCCCGGTATGGCCA[C/T]GCCCCCTCCTAGCCG | 326 |
rs372979932 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295098 | GCTGCAGGAGCCTCC[A/G]GGGGGGTGGCCTCTT | 326 |
rs372997338 | snp | A/C/G | 6.15774e-05 | 0.00554847 | intron-variant | AIRE | GRCh38.p7 | 21:44291256 | GCCACCCCGGTTCAC[A/C/G]GCCGCCTCCACCCAC | 326 |
rs373237600 | snp | A/G | 6.61397e-05 | 0.00575026 | missense | AIRE | GRCh38.p7 | 21:44294412 | GCAGGACGGGCCTGC[A/G]CTGCAGATCCTGCTC | 326 |
rs373277723 | snp | A/C/G/T | 0.000118111 | 0.00768403 | intron-variant | AIRE | GRCh38.p7 | 21:44288465 | TTGAGTCAGGTAGAC[A/C/G/T]CTGTGGCGGGGAGAT | 326 |
rs373282939 | snp | A/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44288963 | GCTGGTGGCAGACCC[A/T]CCGTGCCATCGGGGC | 326 |
rs373370410 | snp | A/C | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284267 | CCCTGCTCCCCGCTC[A/C]AGGCTCCCAGGACAT | 326 |
rs373383785 | snp | A/G | 8.81034e-05 | 0.00663656 | missense | AIRE | GRCh38.p7 | 21:44293880 | CCTTCCACTGGCGCT[A/G]CCACTTCCCAGCCGG | 326 |
rs373522957 | snp | C/T | 1.76689e-05 | 0.00297223 | intron-variant | AIRE | GRCh38.p7 | 21:44289853 | TGATGCCCCCCGCCC[C/T]AGGAACAGCGTTGCC | 326 |
rs373608872 | snp | A/C/G/T | 0.000250242 | 0.0111834 | intron-variant | AIRE | GRCh38.p7 | 21:44296333 | CGGCCTCTGTACCCC[A/C/G/T]ACCAGGGCTGTGGGA | 326 |
rs373609364 | snp | C/T | 8.75572e-05 | 0.00661596 | intron-variant | AIRE | GRCh38.p7 | 21:44286536 | GACCATGGCAGGGAC[C/T]CTCATGCCACCCCAC | 326 |
rs373621797 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44289325 | CACAGCTGTCTCCCA[C/T]GTGTCCTCTTTATAA | 326 |
rs373812368 | snp | C/T | 0.00292221 | 0.0381125 | intron-variant | AIRE | GRCh38.p7 | 21:44294365 | TGGCACTCCTGCTCC[C/T]CCCCAGGGCTGGCAG | 326 |
rs373849064 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | AIRE | GRCh38.p7 | 21:44295246 | TGTGCCTCCGCCCCG[C/T]ATACACCGTGTGGGT | 326 |
rs373920616 | snp | A/T | 1.66701e-05 | 0.002887 | missense | AIRE | GRCh38.p7 | 21:44296399 | ATGACACTGCCAGTC[A/T]CGAGCCCGCTCTGCA | 326 |
rs373985995 | snp | A/G | 0.000126042 | 0.00793759 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293133 | AGGGCTGGACTCCTC[A/G]GCCCTGCACCCCCTA | 326 |
rs373993732 | snp | A/G | 0.000170888 | 0.009242 | missense | AIRE | GRCh38.p7 | 21:44293813 | CCTGGTGCGCGTTGC[A/G]GGGTGTGCGGAGATG | 326 |
rs374090129 | snp | C/T | 0.00119737 | 0.0244387 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284206 | GGGGTCTTCGGAAGG[C/T]GCAGTGCAGGGAGTG | 326 |
rs374358283 | snp | G/T | 6.90238e-05 | 0.00587428 | intron-variant | AIRE | GRCh38.p7 | 21:44293781 | CCCCGCGCTGTTGCC[G/T]CCCACAGAACCTGGC | 326 |
rs374442760 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44292634 | CTCCTGGCTGCGGGT[C/T]CACCCCGGGGGGCAC | 326 |
rs374475349 | snp | C/T | 0.000475398 | 0.0154102 | missense | AIRE | GRCh38.p7 | 21:44292400 | CACCCGTGGAGACCC[C/T]GGTATGGCCACGCCC | 326 |
rs374549350 | snp | A/G | 5.37948e-05 | 0.00518599 | intron-variant | AIRE | GRCh38.p7 | 21:44287157 | CCTGCAGGGGAAGCC[A/G]GCCAGGGTCTCCAGT | 326 |
rs374555273 | snp | C/T | 0.000155988 | 0.00883005 | missense | AIRE | GRCh38.p7 | 21:44292318 | GGGACCTGGAGGTGC[C/T]CCAGCTGCCTGCAGG | 326 |
rs374563371 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44286355 | CCCCAAGCCAAGGGA[A/G]TGGCCTCCAGGTTCC | 326 |
rs374568674 | snp | C/T | 0.000153988 | 0.00877327 | intron-variant | AIRE | GRCh38.p7 | 21:44293748 | GTTCAGCTACATTTC[C/T]CCCGGCCCCCCGCGT | 326 |
rs374588482 | snp | A/G | 3.36717e-05 | 0.00410302 | missense | AIRE | GRCh38.p7 | 21:44289737 | GGCAGTGGGAAGAAC[A/G]AGGCCCGCAGCAGCA | 326 |
rs374627046 | snp | C/G | 0.000153988 | 0.00877327 | intron-variant | AIRE | GRCh38.p7 | 21:44290110 | CCCTGTCTGCCCTTG[C/G]TCCCCTCGGGTGGGT | 326 |
rs374635703 | snp | G/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285436 | GGGGCTCTCAGCTTG[G/T]GTGGAGGTCCCCCAG | 326 |
rs374704178 | snp | A/G | 0.000442897 | 0.0148746 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287117 | AGCCCTGACTCCAAG[A/G]GGCACCGCCAGCCCA | 326 |
rs374786966 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296286 | TTCCCATCTCAGTGT[A/G]GGGGAAACACCCCCG | 326 |
rs374842523 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285661 | AGTCCCGCACAGAGC[A/G]AGTCTCTGTCCCCAG | 326 |
rs374858848 | snp | C/T | 0.000150136 | 0.00866289 | intron-variant | AIRE | GRCh38.p7 | 21:44288313 | GAACAGTCTTCCCCA[C/T]GGGTGACCCCAATGG | 326 |
rs374995530 | snp | A/G/T | 3.47906e-05 | 0.00417065 | intron-variant | AIRE | GRCh38.p7 | 21:44292977 | TGCCCCTCTGATGCT[A/G/T]ACCCTTGGGTTCCAG | 326 |
rs375287460 | snp | C/T | 0.000288559 | 0.0120082 | intron-variant | AIRE | GRCh38.p7 | 21:44292425 | ACGCCCCCTCCTAGC[C/T]GGGCCACCCCTCCTG | 326 |
rs375299488 | snp | C/T | 9.16952e-05 | 0.00677046 | intron-variant | AIRE | GRCh38.p7 | 21:44293926 | GTGAGTGAGCGTGGT[C/T]GGCGGGGAGGCCTGA | 326 |
rs375536220 | snp | A/G | 9.36496e-05 | 0.00684222 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293091 | CTACAAGCACCTGCC[A/G]GCTCCGCCTTCTGCA | 326 |
rs375547384 | snp | C/G | 6.95785e-05 | 0.00589783 | intron-variant | AIRE | GRCh38.p7 | 21:44286967 | ACCCTGCTCCTGCCC[C/G]TGAGCTGCAGATGTG | 326 |
rs375610687 | snp | C/G | 1.68252e-05 | 0.0029004 | missense | AIRE | GRCh38.p7 | 21:44289667 | CCCAGGCGGCTCCAA[C/G]AAGTGCATCCAGGTT | 326 |
rs375658223 | snp | C/T | 0.000101507 | 0.00712344 | missense | AIRE | GRCh38.p7 | 21:44287580 | AGCAGCAGCGCCTTC[C/T]ACTCGGGAACGGTGA | 326 |
rs375814019 | snp | C/T | 0.000225776 | 0.0106225 | intron-variant | AIRE | GRCh38.p7 | 21:44297613 | ATTCTGTGGCTGCGG[C/T]GGGGGCGCACCTGGA | 326 |
rs375815114 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44292475 | TCCTAGGCTGGGCCA[A/C]CCCCTCCTGTCCGTC | 326 |
rs375819189 | snp | A/G | 1.90736e-05 | 0.00308811 | missense | AIRE | GRCh38.p7 | 21:44290049 | CTCTGGCCCTCCCCA[A/G]TGACCCCCAGCTCCA | 326 |
rs375855661 | snp | G/T | 1.77332e-05 | 0.00297763 | intron-variant | AIRE | GRCh38.p7 | 21:44291215 | GAGATCCCCAGGTGA[G/T]CCTGCACCTCTGCCA | 326 |
rs375864049 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44292614 | CTGTGGGCCTAAACC[-/C]AGCTCTCCTGGCTGC | 326 |
rs375893942 | snp | C/T | 0.000153988 | 0.00877328 | intron-variant | AIRE | GRCh38.p7 | 21:44291072 | CCAGCCCAGTCTGCA[C/T]GGGCGTCTCTTGCCT | 326 |
rs375964224 | snp | A/C | 3.49455e-05 | 0.00417989 | intron-variant | AIRE | GRCh38.p7 | 21:44293767 | GGCCCCCCGCGTCAC[A/C]CCGCGCTGTTGCCTC | 326 |
rs375986631 | snp | A/G | 7.02914e-05 | 0.00592796 | intron-variant | AIRE | GRCh38.p7 | 21:44293760 | TTCCCCCGGCCCCCC[A/G]CGTCACCCCGCGCTG | 326 |
rs376060412 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44297588 | GTGACTTCTTGTAAC[A/G]ATGGCCATGATTCTG | 326 |
rs376083924 | snp | C/T | 6.65004e-05 | 0.00576592 | synonymous-codon | AIRE | GRCh38.p7 | 21:44288400 | CATGTCCTCCGGGGA[C/T]GTCCCGGGAGCCCGA | 326 |
rs376098123 | snp | A/G | 0.000308785 | 0.0124216 | intron-variant | AIRE | GRCh38.p7 | 21:44292258 | GGGGATCTGTCACCC[A/G]CTGTCTTGTTCTGCA | 326 |
rs376163906 | snp | A/C/G | 0.014194 | 0.0830393 | intron-variant | AIRE | GRCh38.p7 | 21:44294363 | GGTGGCACTCCTGCT[A/C/G]CCCCCCAGGGCTGGC | 326 |
rs376244719 | snp | G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44291918 | CCGTTCCTCCTTGCC[G/T]TCTCTTTCTGCCCTT | 326 |
rs376315701 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44286281 | CACAAGGAGCCAGGG[A/G]CGTCCCTGATGACAA | 326 |
rs376402964 | snp | A/G | 0.000205072 | 0.0101239 | intron-variant | AIRE | GRCh38.p7 | 21:44297639 | CTGGAGGTTCTCACC[A/G]TCACTCTGTCCCGCA | 326 |
rs376422124 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44291390 | CTGCCACCTGCCTCC[C/T]GGTCTGGCCACACCT | 326 |
rs376509445 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44297452 | GACCTTGGGCCTCAG[C/T]TTCCCCACCTTTGAT | 326 |
rs376597640 | snp | G/T | 0.000153988 | 0.00877328 | intron-variant | AIRE | GRCh38.p7 | 21:44296356 | CTGTGGGAGTTGGGC[G/T]GACCTCTTCTCTTTA | 326 |
rs376612841 | snp | C/G | 3.48547e-05 | 0.00417446 | intron-variant | AIRE | GRCh38.p7 | 21:44289833 | TCCCTGGGGAGCCTG[C/G]CTCTTGATGCCCCCC | 326 |
rs376616904 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44290716 | GGCAGGGCACAAGGA[C/T]GGTGGGGGCTGCAGG | 326 |
rs376703686 | snp | A/C | 0.000153988 | 0.00877327 | intron-variant | AIRE | GRCh38.p7 | 21:44289940 | CACAGCCATGTGCAC[A/C]CTCGCTGCTGAGGCT | 326 |
rs376726091 | snp | C/G | 1.70035e-05 | 0.00291572 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297738 | CCTGACCCCAGATGG[C/G]CGGGACATGCAGCTC | 326 |
rs376731017 | snp | A/C/T | 6.74734e-05 | 0.00580799 | missense | AIRE | GRCh38.p7 | 21:44297708 | GCATGGCCCGTCCGG[A/C/T]GGCCCCCTTCCCCTC | 326 |
rs376741040 | snp | A/G | 3.39922e-05 | 0.00412249 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286562 | CCCACTGCAGGAGAC[A/G]CTTCATCTGAAGGAA | 326 |
rs376768936 | snp | A/G | 0.000102575 | 0.00716078 | missense | AIRE | GRCh38.p7 | 21:44293808 | TGGCTCCTGGTGCGC[A/G]TTGCGGGGTGTGCGG | 326 |
rs376901046 | snp | C/G/T | 0.000279638 | 0.0118217 | missense | AIRE | GRCh38.p7 | 21:44292372 | CGGGCAGAGGAGCCC[C/G/T]GGCCCCAGGAGCCAC | 326 |
rs376909088 | snp | C/T | 0.00335613 | 0.0408265 | synonymous-codon | AIRE | GRCh38.p7 | 21:44294483 | CCCAGCCCCGCCCGC[C/T]TGGCCCCTGGGCCTG | 326 |
rs376986921 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44294989 | CTGTCCTCCTGCTCC[C/G]GGGTCAGAGAGGACC | 326 |
rs377079396 | snp | A/G | 0.000154508 | 0.00878806 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293001 | GTTCCAGCTCCCCCC[A/G]GGGCTTAGGTCGGCG | 326 |
rs377176169 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44289447 | GAGGTTCTGGGTGGA[C/T]GTGAACTTCGGGGGA | 326 |
rs377211200 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293344 | CGGGGGGAAGGGGAC[A/G]CTCCTAGACCTCCAC | 326 |
rs377214946 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287796 | TTGCCAGTCGCCCCT[A/G]CCCCCACTGCACCCT | 326 |
rs377279425 | snp | G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44288648 | GTCTCCCTGTCGGGG[G/T]ACCTTCTGCAAGGCC | 326 |
rs377295310 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44294010 | CCCACAACCACACCC[-/C]ACCCACACCCCACAC | 326 |
rs377300731 | snp | C/T | 1.7354e-05 | 0.00294563 | missense | AIRE | GRCh38.p7 | 21:44286996 | TGGACCTCAGCCAGC[C/T]CCGGAAGGGGAGGAA | 326 |
rs377548994 | snp | A/C | 0.00119737 | 0.0244387 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298455 | ATGTTGTAGCATGTG[A/C]CGAAATCTGCTTCCT | 326 |
rs377598853 | snp | A/G | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298598 | GCTATGAATATGTGT[A/G]TGCAAATATCTGTGT | 326 |
rs377627680 | snp | A/G | 0.000188422 | 0.00970439 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293097 | GCACCTGCCGGCTCC[A/G]CCTTCTGCAGCCCCG | 326 |
rs377684117 | snp | C/T | 7.93745e-05 | 0.00629928 | synonymous-codon | AIRE | GRCh38.p7 | 21:44292326 | GAGGTGCTCCAGCTG[C/T]CTGCAGGCAACAGTC | 326 |
rs377756417 | snp | A/C | 1.72791e-05 | 0.00293926 | intron-variant | AIRE | GRCh38.p7 | 21:44293779 | CACCCCGCGCTGTTG[A/C]CTCCCACAGAACCTG | 326 |
rs386833672 | in-del | -/A | 0.000255291 | 0.0112951 | AIRE | 21 | allele_origin=A(unknown)/(germline) | 21:44293060 | ACCCCTAGCCGGCAT[-/A]GGACACGACTCTTGT | 326 |
rs386833673 | snp | A/T | | | stop-lost | AIRE | GRCh38.p7 | 21:44297727 | CCCCTTCCCCTCCTG[A/T]CCCCAGATGGCCGGG | 326 |
rs386833674 | snp | A/G | | | missense | AIRE | GRCh38.p7 | 21:44291147 | GGGAGCTCATCTGCT[A/G]TGACGGCTGCCCTCG | 326 |
rs386833675 | in-del | -/CTGTCCCCTCCGC | | | frameshift-variant | AIRE | GRCh38.p7 | 21:44291182 | TTCCACCTGGCCTGC[-/CTGTCCCCTCCGC]TCCGGGAGATCCCCA | 326 |
rs387906293 | in-del | -/C | | | frameshift-variant | AIRE | GRCh38.p7 | 21:44293000 | GTTCCAGCTCCCCCC[-/C]GGGGCTTAGGTCGGC | 326 |
rs387906294 | in-del | -/G | | | frameshift-variant | AIRE | GRCh38.p7 | 21:44296392 | TTCCAGGATGACACT[-/G]CCAGTCACGAGCCCG | 326 |
rs387906295 | in-del | -/C | | | frameshift-variant | AIRE | GRCh38.p7 | 21:44289793 | CAAGGGAGCCCAGGG[-/C]GCTGCCCCCGTAAGC | 326 |
rs397691314 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44292479 | AGGCTGGGCCACCCC[-/C]TCCTGTCCGTCTGTC | 326 |
rs397700285 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44288124 | ACACTGCCACCCCCC[-/C]AGCACACGCACACTT | 326 |
rs397943720 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44289281 | CTGGGCTCAGGACCC[-/C]ACCGCTCCAGCCTCT | 326 |
rs527251558 | snp | A/C | 1.67315e-05 | 0.00289231 | intron-variant | AIRE | GRCh38.p7 | 21:44296489 | CCTCCACTCCCCCTC[A/C]CCTGCCTCAGCCGGC | 326 |
rs527499465 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285408 | CCCACAGCCCCAGGC[A/G]GGCCCCTGAGTAGGG | 326 |
rs527562882 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288729 | CCTCCATCCATGTGC[A/G]TGGGCCCTCCTGGGC | 326 |
rs527566053 | snp | C/T | 7.29794e-05 | 0.00604023 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293169 | TGTGGGTCCTGAGGG[C/T]CAGCAGGTGAGCGGG | 326 |
rs527634594 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288227 | GGGTCCCCTCCTTGG[C/T]CTGCCCTGGCTGGAA | 326 |
rs527766436 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292180 | GCCCATCTCTCTGCT[A/G]TGCCTCGGTTCCCCC | 326 |
rs527831122 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292487 | CCACCCCCTCCTGTC[C/T]GTCTGTCCCCTGGAG | 326 |
rs527944302 | snp | C/T | 1.6638e-05 | 0.00288422 | synonymous-codon | AIRE | GRCh38.p7 | 21:44291106 | CCAGAAGAATGAGGA[C/T]GAGTGTGCCGTGTGT | 326 |
rs528176573 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44287415 | AAGGGACTACCCAGC[A/C]CTGGACCGCCCCCTC | 326 |
rs528458118 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | AIRE | GRCh38.p7 | 21:44293975 | CACCCCACCCCACAC[C/T]CCCCACCCACATCAT | 326 |
rs528593935 | snp | C/G | 0.000399281 | 0.0141238 | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298093 | GCTGAGATTGCGCCA[C/G]TGCACTCCAGTCTGG | 326 |
rs528667089 | snp | A/C/G | 0.000363693 | 0.0134803 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287024 | GAAGCCCCCGGCCGT[A/C/G]CCCAAGGCTTTGGTA | 326 |
rs528761924 | snp | C/T | | | synonymous-codon | AIRE | GRCh38.p7 | 21:44294491 | CGCCCGCCTGGCCCC[C/T]GGGCCTGCCAAGGTC | 326 |
rs528762050 | snp | A/G | 0.0001156 | 0.00760176 | missense | AIRE | GRCh38.p7 | 21:44294481 | CCCCCAGCCCCGCCC[A/G]CCTGGCCCCTGGGCC | 326 |
rs528777553 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44290505 | CTTGGCACCAGGGGC[A/T]CTGTGGGGCCCTGGC | 326 |
rs528985612 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44293728 | CGCACAGGGCTCGGG[A/T]TCGGGTTCAGCTACA | 326 |
rs529353083 | snp | A/G | 0.000798403 | 0.0199641 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284498 | TCAGACGTGCAGAAC[A/G]CTCAGGGGGACCCTG | 326 |
rs529391183 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44288974 | ACCCACCGTGCCATC[A/G]GGGCATTCCATCTCA | 326 |
rs529521630 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | AIRE | GRCh38.p7 | 21:44296992 | GCCTCCACGGGTTCT[C/T]CTCAGTGTCTGATGT | 326 |
rs529577716 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296581 | TCAGGCTGTCCCTGC[C/T]CCACCCACCAGGAGC | 326 |
rs530125277 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44294868 | CTGTCTGACCCCTCC[A/G]GGTTGTCTCACCCCC | 326 |
rs530135617 | snp | G/T | 0.00199481 | 0.0315187 | intron-variant | AIRE | GRCh38.p7 | 21:44295240 | CCCAGCTGTGCCTCC[G/T]CCCCGTATACACCGT | 326 |
rs530268492 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44291892 | TGGGGGTCATTGCTC[A/G]GCTCCTGAAGCCGTT | 326 |
rs531091430 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44290469 | GGGGTGCCTGCCGTG[G/T]TGGGTTACAGATCTT | 326 |
rs531099926 | snp | C/T | 0.00119737 | 0.0244387 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297997 | ATTAGCTGGGTGTGG[C/T]GGTGGGTGCCTGTAA | 326 |
rs531120264 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289915 | GCTGCTGCCGAGAGA[C/T]GCCTGGTGCCACAGC | 326 |
rs531171564 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293451 | GGGAGCCCTCCCCTC[C/T]CTGCCTCAATTCCCT | 326 |
rs531182353 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289019 | TGTCTCCTCGGTGCT[A/G]GACATGGGCTGGGAA | 326 |
rs531220961 | snp | C/T | 5.13382e-05 | 0.00506621 | missense | AIRE | GRCh38.p7 | 21:44293805 | ACCTGGCTCCTGGTG[C/T]GCGTTGCGGGGTGTG | 326 |
rs531232929 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44292191 | TGCTGTGCCTCGGTT[-/C]CCCCTCTGTGAAAAG | 326 |
rs531294211 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296536 | CTGGGGGAGGACTGC[C/T]GGCCCCCACTGCTCT | 326 |
rs531306304 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293189 | AGGTGAGCGGGGAGT[C/G]GGGGTCAGGGTGGGC | 326 |
rs531681111 | snp | C/G | 0.0023933 | 0.0345097 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285491 | ATGGAGGCTCTTGCC[C/G]GCCACTGGGAGGGGC | 326 |
rs531815480 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296273 | CTGGGTGTAAGAATT[A/C]CCATCTCAGTGTGGG | 326 |
rs531867984 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284053 | TGCAGTTATTTAAAT[A/G]TTTTTGCTGTAAATA | 326 |
rs531871611 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288644 | TGAAGTCTCCCTGTC[A/G]GGGGACCTTCTGCAA | 326 |
rs532181250 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | AIRE | GRCh38.p7 | 21:44290198 | TACCCACAGGGTACA[A/G]CTCTTTTTCTTTAAT | 326 |
rs532345194 | snp | C/T | 0.00755907 | 0.0610114 | intron-variant | AIRE | GRCh38.p7 | 21:44294828 | GAGAGCGGGAGCGCC[C/T]GGCCTGCAGGAGCAA | 326 |
rs532437690 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44292217 | AAAAGACATGGTCGG[A/G]GCCCTGGAGCTCCAC | 326 |
rs532459427 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295605 | GTTCTGTCTCTGAAC[A/G]GCAGAGACCTCTTTC | 326 |
rs532481975 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44294530 | AGGGGCCCTCCATGC[A/C]TGCCGGTGCTGGGGG | 326 |
rs532734160 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287444 | TCCACGCCCTCCCAC[C/T]GCGGGCCCCTGCCCA | 326 |
rs532902179 | snp | A/G | 0.000399281 | 0.0141238 | utr-variant-5-prime | AIRE | GRCh38.p7 | 21:44285876 | CGTGGCTCGCAGACC[A/G]GGGAGACGGGCGGGC | 326 |
rs532930697 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44290375 | CCCTGCTATAGCCAG[A/G]AGGTCAAGGATCCAC | 326 |
rs532995829 | snp | C/T | 0.000798403 | 0.0199641 | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298172 | CACATAACATAAATT[C/T]ATCATCTCGACCACT | 326 |
rs533097051 | snp | G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44287614 | GGGCCCAGTGGGAGC[G/T]CCTCCCTTCTCCCTG | 326 |
rs533239578 | in-del | -/ACCTGGG | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284992 | TCCCCACTCACGTCC[-/ACCTGGG]ACCCTCGGCTCCTGT | 326 |
rs533467189 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293580 | CTTGCAGGCAGCAGC[C/T]TGAGGGTGCTTGGGT | 326 |
rs533908454 | snp | A/G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44295663 | CATGTCAGAGGAAAA[A/G/T]TTCTGGCTGGCCTTG | 326 |
rs534008464 | snp | A/G/T | 0.000100065 | 0.00707266 | missense | AIRE | GRCh38.p7 | 21:44287561 | AAGCCGGAGAGCAGC[A/G/T]CAGAGCAGCAGCGCC | 326 |
rs534122402 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284595 | CATCCTGGACTCTGG[C/T]TGCCCAAAAGCAAAC | 326 |
rs534162689 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295495 | CATCTGGAGTCAGGA[C/G]CCCAGCCGGGCATAT | 326 |
rs534476312 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287199 | TCCCCGGGAGCCCAC[A/G]CCCCCTCCCCACCCG | 326 |
rs534649469 | snp | A/C/G/T | 0.00084219 | 0.0205064 | intron-variant | AIRE | GRCh38.p7 | 21:44294367 | GCACTCCTGCTCCCC[A/C/G/T]CCAGGGCTGGCAGCC | 326 |
rs534788373 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44291634 | GTTTGTCCACCAATG[C/T]ACAGGACGCCGGGCT | 326 |
rs534913720 | snp | A/T | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298572 | ACCTTTTGGCTGTTG[A/T]GAGTAATGCTGCTAT | 326 |
rs535050462 | in-del | -/GGGCTGCCGGGCCTCGCAGCGCCAGTGTTCACCCGAGT | 0.0174175 | 0.0916809 | intron-variant | AIRE | GRCh38.p7 | 21:44295837 | TCCCTCAGCCATGCA[lengthTooLong]GGAGGAGCTGGGATG | 326 |
rs535113255 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293644 | CTGTCCTGCAGCCTG[A/C]GTGGCACCGTGAGGC | 326 |
rs535180659 | snp | G/T | 0.000798403 | 0.0199641 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284698 | TGGATTCAGGCTTCC[G/T]GGTACCTTCGTCCAC | 326 |
rs535317267 | snp | C/T | 0.000161564 | 0.00898643 | intron-variant | AIRE | GRCh38.p7 | 21:44286156 | GGGCTCCCCGCCCGC[C/T]CCCCGCTGCCCCCAG | 326 |
rs535383465 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44286522 | CGCAGGGTGTGGGGG[A/T]CCATGGCAGGGACCC | 326 |
rs535513935 | snp | A/C | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44295869 | AGCGCCAGTGTTCAC[A/C]CGAGTGGAGGAGCTG | 326 |
rs535621855 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288877 | CCTGCAGCATCCTCG[C/T]CCGCCATTCCCTGGC | 326 |
rs535673701 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | AIRE | GRCh38.p7 | 21:44297205 | TGAGCGACGGGCTCA[C/T]AGCCTCTCCCGGGTG | 326 |
rs535682963 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293310 | GGGCCTGGGGCTGTG[C/G]GGGGAGCGTGGGGGG | 326 |
rs536338321 | snp | C/T | 0.00019983 | 0.00999376 | synonymous-codon | AIRE | GRCh38.p7 | 21:44291115 | TGAGGACGAGTGTGC[C/T]GTGTGTCGGGACGGC | 326 |
rs536357179 | snp | A/G | 9.08934e-05 | 0.0067408 | intron-variant | AIRE | GRCh38.p7 | 21:44287170 | CCAGCCAGGGTCTCC[A/G]GTCTTCCCGGGCTTC | 326 |
rs536365800 | snp | C/T | 0.00478085 | 0.0486577 | intron-variant | AIRE | GRCh38.p7 | 21:44295427 | GGAACAGTGGCGTGG[C/T]CCACAGCTGTCACTG | 326 |
rs536372412 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291719 | GCCCACCGAGCCCTG[C/T]CCCCATTCCAACCCC | 326 |
rs536545498 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | AIRE | GRCh38.p7 | 21:44288029 | CTCTGTGTCCCTCCC[A/G]GCACAATACAGGGCC | 326 |
rs536752601 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285213 | AGGAGGGGGTCAATG[C/T]GAGCCTCAATCCCCA | 326 |
rs536874722 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44294561 | TGGGGAACCCCTTGG[A/G]TTGGTGTTGGGGGAG | 326 |
rs536903815 | snp | C/T | 0.000798403 | 0.0199641 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298309 | CCATTCCCCTCCCAA[C/T]CCCTGGCACCCTCCA | 326 |
rs536914673 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44288322 | TCCCCACGGGTGACC[C/T]CAATGGGTGTTCCCT | 326 |
rs536964115 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44294358 | CCGGAGGTGGCACTC[C/T]TGCTCCCCCCCAGGG | 326 |
rs537090651 | snp | C/T | 0.000399281 | 0.0141238 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297833 | AGAAGGGGACAGCGC[C/T]ACCTCTTGTCAGTGC | 326 |
rs537472057 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293613 | CCCCTGCCTCCTGGG[A/G]ATGGGACTGGTCCCG | 326 |
rs537497198 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44296675 | CCCCCGGCCCCTCCC[C/T]CTGCGGGAGCCCAGT | 326 |
rs537560119 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | AIRE | GRCh38.p7 | 21:44297195 | GCTGGAGAAATGAGC[A/G]ACGGGCTCACAGCCT | 326 |
rs537707295 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44290278 | TCAGAGAAAGTGAGG[C/T]CTTCTCAGGCTCTTA | 326 |
rs537745896 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44289532 | CTGGGGTGGGGGCGG[A/G]CTGGAGGAATGCAGG | 326 |
rs537949516 | snp | A/G | 0.00597247 | 0.0543191 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284200 | CCTCTCGGGGTCTTC[A/G]GAAGGCGCAGTGCAG | 326 |
rs538076261 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292730 | TACTGTGCACAGACC[C/T]AGTGTTCCCTCTGAC | 326 |
rs538162388 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | AIRE | GRCh38.p7 | 21:44295840 | CTCAGCCATGCAGGG[C/T]TGCCGGGCCTCGCAG | 326 |
rs538568691 | snp | C/T | 0.000914773 | 0.021367 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287584 | GCAGCGCCTTCCACT[C/T]GGGAACGGTGAGCGG | 326 |
rs538663474 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295008 | TCAGAGAGGACCTGG[A/G]TGGCGCGGAGACCCC | 326 |
rs538755888 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44294033 | CCCCACACTCCCACC[C/T]ACACCTTGCACCCCA | 326 |
rs538758540 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44294979 | GTAGCTCTTCCTGTC[C/T]TCCTGCTCCGGGGTC | 326 |
rs538764574 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant | AIRE | GRCh38.p7 | 21:44296621 | GCTGAGCACCTGGCA[C/T]CCCCCACAGGAGCCC | 326 |
rs538802193 | snp | G/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44287999 | CCCTATCTCCCTGAG[G/T]GCAGAGCCTAGGAAC | 326 |
rs539080651 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285625 | CAGGACAGGGCCACA[C/T]TCGGAAGTGAGAGTT | 326 |
rs539135744 | snp | A/T | 0.00716266 | 0.059414 | intron-variant | AIRE | GRCh38.p7 | 21:44286229 | ACCCCGCCCCTCCAG[A/T]TCCCCAAGCCCCTCC | 326 |
rs539299111 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44297232 | GGTGGCGGTCTTATT[C/T]TGCTGGCATCGTGGG | 326 |
rs540052162 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44291659 | CGGGCTTAGTGGGGG[C/T]GGGAGGCCTCCTCTG | 326 |
rs540093597 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295573 | CCGCAGCGGGTACCT[C/T]GTCATTAACCTCCTG | 326 |
rs540124497 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293320 | CTGTGGGGGGAGCGT[C/G]GGGGGCTGCGGGGGG | 326 |
rs540319818 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44287669 | AGAGCAGGGCCTGCC[C/G]TCTGAGACCCTGTCC | 326 |
rs540594107 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291456 | GCAAAGCAGAACAGA[A/G]GCCCAGGGCGAAGAT | 326 |
rs540601109 | snp | A/G | | | missense | AIRE | GRCh38.p7 | 21:44293056 | GGGGAACCCCTAGCC[A/G]GCATGGACACGACTC | 326 |
rs540612512 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44289001 | CTCAAGTCCCTGACA[C/T]GGTGTCTCCTCGGTG | 326 |
rs540660094 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44290342 | GCTCTCAGCTGGGCC[C/T]GTGGGTGGGCCGGGC | 326 |
rs540731422 | snp | C/T | 0.000399281 | 0.0141238 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297866 | GGCTGTAAACAGCTC[C/T]GTGTTTCTGGGGACA | 326 |
rs540790785 | snp | A/C/G | 0.000106367 | 0.00729206 | missense | AIRE | GRCh38.p7 | 21:44293894 | TGCCACTTCCCAGCC[A/C/G]GCACCTCCCGGCCCG | 326 |
rs540855212 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287424 | CCCAGCACTGGACCG[C/T]CCCCTCCACGCCCTC | 326 |
rs540930014 | snp | C/T | 1.67318e-05 | 0.00289234 | missense | AIRE | GRCh38.p7 | 21:44286725 | ATCCTGGACAGCTTC[C/T]CCAAAGGTGGGTCCT | 326 |
rs540945700 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295101 | GCAGGAGCCTCCGGG[C/G]GGGTGGCCTCTTGCC | 326 |
rs541509491 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296137 | CCTCGTTTTCCCCAG[A/G]AGGCCACACAGTGTG | 326 |
rs541528737 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289284 | GGGCTCAGGACCCAC[C/T]GCTCCAGCCTCTGCT | 326 |
rs541542768 | snp | G/T | 0.00993419 | 0.0697739 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285379 | GCATCAGACTGAGCC[G/T]CCATCGGGCTCCTCC | 326 |
rs541658189 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44297351 | GGAGGCAGAACTGCC[A/G]TGAACTGCCATGGGG | 326 |
rs541693071 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293416 | CAGGACAATGAAGGG[C/G]GGGATGTCCCAGCAC | 326 |
rs541779140 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296834 | GTGGGAGTGGGGGGG[C/G]GGTCCCAGACCCCGT | 326 |
rs541854967 | snp | A/G | 0.000133914 | 0.00818162 | intron-variant | AIRE | GRCh38.p7 | 21:44292412 | CCCCGGTATGGCCAC[A/G]CCCCCTCCTAGCCGG | 326 |
rs542068286 | snp | A/G | 1.67038e-05 | 0.00288992 | intron-variant | AIRE | GRCh38.p7 | 21:44296469 | TCCCCTGGCCTCCTG[A/G]TGCTCCTCCACTCCC | 326 |
rs542074722 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288975 | CCCACCGTGCCATCG[A/G]GGCATTCCATCTCAA | 326 |
rs542108763 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288151 | ACTTGGGTGCACACA[C/T]GAACACACACATTCT | 326 |
rs542330786 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44295557 | TTTCCTGCAACTGCT[C/T]CCGCAGCGGGTACCT | 326 |
rs542469295 | snp | C/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44291394 | CACCTGCCTCCCGGT[C/G]TGGCCACACCTGCTG | 326 |
rs542604938 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44292886 | ACCATGCCAGGCCTC[C/T]GCCCCCACCCTGCTG | 326 |
rs542739016 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291411 | GGCCACACCTGCTGC[C/G]CAGCCTGGACAGCTG | 326 |
rs542910546 | snp | C/T | 0.000399281 | 0.0141238 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298689 | TGCCATCCTGTTTTC[C/T]ACAGCAGCTACACCA | 326 |
rs543031027 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44297257 | CGTGGGGCCCGTGGC[C/T]CCATCCTGTGGGAGC | 326 |
rs543058317 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | AIRE | GRCh38.p7 | 21:44293714 | GTCCCAGGGGAGAGC[A/G]CACAGGGCTCGGGTT | 326 |
rs543071063 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296939 | AATGTGACTTTTAAG[A/G]GCTCTGTCTGTTTTT | 326 |
rs543275794 | snp | A/G | 5.02567e-05 | 0.00501257 | intron-variant | AIRE | GRCh38.p7 | 21:44290828 | TTGGTGTACAGTTCC[A/G]GGGCCCCTGGAACGC | 326 |
rs543275817 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44294752 | ACGTCACGGTTGGCT[A/G]TGTGGCCGCCTCACA | 326 |
rs543359764 | in-del | -/C | 0.00557542 | 0.0525036 | intron-variant | AIRE | GRCh38.p7 | 21:44296633 | CACCCCCCACAGGAG[-/C]CCCCCCTAGCCCCCT | 326 |
rs543508973 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288666 | CTTCTGCAAGGCCAG[C/T]GGTCCAGGCCCACAT | 326 |
rs543719999 | snp | A/C | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285779 | AGGGAAGTGTCCCTG[A/C]GGGAGGCCCTGGCCC | 326 |
rs543891914 | snp | A/G | 0.0013386 | 0.0258362 | missense | AIRE | GRCh38.p7 | 21:44293104 | CCGGCTCCGCCTTCT[A/G]CAGCCCCGCTGCCAG | 326 |
rs543917083 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288948 | GGGCACAGCAGGGCC[A/G]CTGGTGGCAGACCCA | 326 |
rs544178738 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44294835 | GGAGCGCCCGGCCTG[C/T]AGGAGCAAACCCCCA | 326 |
rs544410583 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295762 | GCTCTCCCACCCCCT[A/G]GGAGCATCCTTAGGA | 326 |
rs544460964 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292854 | GACGCCTTCCACCAT[A/G]CCAGCCCTCCGCCCC | 326 |
rs544715010 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44286836 | TGAGGAGCCCGTGGG[G/T]GATGTTCCAGGACCG | 326 |
rs544791261 | snp | C/T | 0.000154963 | 0.00880098 | intron-variant | AIRE | GRCh38.p7 | 21:44290789 | GGCCTGGCCCCACTG[C/T]CCTGTGAGGAAGGGT | 326 |
rs545042010 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44290414 | CCATGCTCATCTTTC[A/G]TCCCCAGCATGGTTT | 326 |
rs545287094 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287231 | GCTCCCACCCACTGG[G/T]TGTGGGGCCAGCCTG | 326 |
rs545371740 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296528 | TCCCCACTCTGGGGG[A/G]GGACTGCCGGCCCCC | 326 |
rs545431218 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant | AIRE | GRCh38.p7 | 21:44296873 | GATTTGCTTGCCCCT[C/T]CCAACTCAGGCCTCT | 326 |
rs545517470 | snp | C/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285738 | ACTTCCCGAGAGCGA[C/G]GGAGGGACAGCAGCG | 326 |
rs545595006 | snp | A/G | 0.000399281 | 0.0141238 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297993 | AAAAATTAGCTGGGT[A/G]TGGTGGTGGGTGCCT | 326 |
rs545716689 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289597 | CCCTGGGGCCTACAC[A/G]ACTGCCAAGGCAGGT | 326 |
rs545785436 | snp | C/G/T | | | utr-variant-5-prime | AIRE | GRCh38.p7 | 21:44285857 | GGGGTATAACAGCGG[C/G/T]GCGCGTGGCTCGCAG | 326 |
rs545792165 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44293670 | GAGGCTCCTCACTTG[C/T]GCCTAGACCCGCCGT | 326 |
rs546076205 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284405 | ACCCCAGGCTGACCA[C/T]CTCGGCCACCACCTC | 326 |
rs546088374 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284763 | CGTTCTCTGGCTCAG[C/T]GGGAACACTCGTGCC | 326 |
rs546102157 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289291 | GGACCCACCGCTCCA[C/G]CCTCTGCTTCTGTGG | 326 |
rs546168932 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288910 | GCCGCTGACCCCATG[C/T]AATCACCAGTGCCAT | 326 |
rs546240527 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295965 | CTGCTGGGGGTGCCT[G/T]CCTGGGGACCTTCTC | 326 |
rs546303706 | snp | A/G | 0.00557542 | 0.0525036 | intron-variant | AIRE | GRCh38.p7 | 21:44292839 | TTCCCACTCAGTGTG[A/G]ACGCCTTCCACCATG | 326 |
rs546454745 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291641 | CACCAATGCACAGGA[C/T]GCCGGGCTTAGTGGG | 326 |
rs546743191 | snp | A/G | 0.000399281 | 0.0141238 | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298118 | GTCTGGTCGGCAAGA[A/G]TGAGACTCCGTCTCA | 326 |
rs546811801 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292214 | GTGAAAAGACATGGT[C/T]GGAGCCCTGGAGCTC | 326 |
rs547017183 | snp | C/T | 0.000798403 | 0.0199641 | utr-variant-5-prime | AIRE | GRCh38.p7 | 21:44285851 | GTCGCGGGGGTATAA[C/T]AGCGGCGCGCGTGGC | 326 |
rs547040515 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289475 | GGACGCTGTTGAACA[C/T]CCTGGTGTAGATCCA | 326 |
rs547103905 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285555 | GAGACCCGAGCCTCC[C/T]CGCCGAGGGCACCTG | 326 |
rs547235267 | snp | A/G | 9.98685e-05 | 0.00706571 | intron-variant | AIRE | GRCh38.p7 | 21:44290890 | AATAGGGATGGCCCC[A/G]GGGGGTGTCTGTTGG | 326 |
rs547565162 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284887 | CTGAGGCCACCCCCC[C/T]TCCAGGCCATGCCTG | 326 |
rs547663529 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44297015 | TCTGATGTGGCACCC[A/G]GGGGTCCCAGCTGAC | 326 |
rs547722975 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44293491 | CCCTGTGGGCACCGC[A/C]TTTCAGGAGACTCCC | 326 |
rs547823315 | snp | A/G | 3.90724e-05 | 0.00441981 | intron-variant | AIRE | GRCh38.p7 | 21:44291249 | CAACCAGGCCACCCC[A/G]GTTCACGGCCGCCTC | 326 |
rs547952171 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295433 | GTGGCGTGGCCCACA[A/G]CTGTCACTGTCCCCT | 326 |
rs547957261 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293311 | GGCCTGGGGCTGTGG[A/G]GGGAGCGTGGGGGGC | 326 |
rs548154137 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295757 | GAGCAGCTCTCCCAC[C/T]CCCTGGGAGCATCCT | 326 |
rs548203568 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284034 | CTTCTGTGCAACTTT[C/T]GCTTGCAGTTATTTA | 326 |
rs548236834 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291592 | AGCACAGAGGCCACA[A/G]AGCTGTGCCCCCCAG | 326 |
rs548255741 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292651 | ACCCCGGGGGGCACT[A/G]TGAGCATTGATAACG | 326 |
rs548391782 | snp | A/G | 0.00597247 | 0.0543191 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284520 | GGGACCCTGGGCCTG[A/G]AGGCGGTAGGAGAAA | 326 |
rs548464835 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292865 | CCATGCCAGCCCTCC[A/G]CCCCCACCATGCCAG | 326 |
rs548518643 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288689 | GCCCACATCCCCACC[C/T]GGGATGTACAGCACT | 326 |
rs548651556 | snp | C/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44297573 | AGGGAAGGTTGGATG[C/G]TGACTTCTTGTAACG | 326 |
rs548760882 | in-del | -/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44288118 | CTGCTGACACTGCCA[-/C]CCCCCCAGCACACGC | 326 |
rs549422134 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293232 | CCAGGACCTACGGGG[C/T]GGATGAATTCACCTG | 326 |
rs549543017 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289359 | CACCAGTCATTGAAC[G/T]TATGGTCCAGTGTGA | 326 |
rs549719238 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44290494 | GATCTTGACCACTTG[G/T]CACCAGGGGCTCTGT | 326 |
rs549777369 | snp | C/T | 0.00279162 | 0.0372561 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285117 | CCTAGGAAGACCCTT[C/T]GGGAGCTCTCACTCA | 326 |
rs549943844 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296302 | GGGGAAACACCCCCG[C/T]GGCCCCTAGGCCCTG | 326 |
rs550026014 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284447 | TCCTCCCCAGGTTTG[C/T]TCCCAAACACCCCTA | 326 |
rs550205432 | snp | A/G | 0.00119737 | 0.0244387 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44283902 | CAGCCAGTGGGCCCA[A/G]GGGTTGCCATTGAAC | 326 |
rs550227751 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292864 | ACCATGCCAGCCCTC[C/T]GCCCCCACCATGCCA | 326 |
rs550483964 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44288023 | TAGGAACTCTGTGTC[C/T]CTCCCGGCACAATAC | 326 |
rs550628649 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44294534 | GCCCTCCATGCATGC[C/T]GGTGCTGGGGGTGGG | 326 |
rs550679632 | snp | A/G | 3.31735e-05 | 0.00407255 | intron-variant | AIRE | GRCh38.p7 | 21:44291060 | GGGTGCTGCACCCCA[A/G]CCCAGTCTGCATGGG | 326 |
rs550704282 | snp | C/T | 0.0153509 | 0.0862543 | intron-variant | AIRE | GRCh38.p7 | 21:44295097 | TGCTGCAGGAGCCTC[C/T]GGGGGGGTGGCCTCT | 326 |
rs550743042 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296777 | GGCAGGCAGAGGCTC[C/G]AGCACCAGGCTCAAG | 326 |
rs550776537 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44292614 | CTGTGGGCCTAAACC[C/G]AGCTCTCCTGGCTGC | 326 |
rs550861990 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295684 | GCTGGCCTTGGCCTC[C/T]CCCCTCAGCCTGCCC | 326 |
rs550995300 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291525 | CCCCCATGGGTAGCC[A/G]GCCCCCACCCCCAAG | 326 |
rs551151998 | snp | C/T | 0.000399281 | 0.0141238 | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298215 | GGCATTCACATCTCA[C/T]GTAACCATTGCCACC | 326 |
rs551213280 | snp | A/G | 0.000115962 | 0.00761365 | intron-variant | AIRE | GRCh38.p7 | 21:44287483 | CACCCCCACTGAGAG[A/G]GGAGGCCAGGCTGCC | 326 |
rs551300672 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285004 | TCCACCTGGGACCCT[C/T]GGCTCCTGTCCACTG | 326 |
rs551476554 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44286435 | GCCGAGGAGATGGGC[A/G]TGGAGCTGTCCAGGT | 326 |
rs551734360 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289872 | AACAGCGTTGCCTCT[A/G]GGGGAGTGGCTCTGC | 326 |
rs551934701 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289515 | CCGGGCCCCAGACTC[A/G]ACTGGGGTGGGGGCG | 326 |
rs552114342 | snp | C/T | 0.0248432 | 0.108648 | intron-variant | AIRE | GRCh38.p7 | 21:44297215 | GCTCACAGCCTCTCC[C/T]GGGTGGCGGTCTTAT | 326 |
rs552129156 | snp | C/T | 8.59306e-05 | 0.00655423 | missense | AIRE | GRCh38.p7 | 21:44293000 | GGTTCCAGCTCCCCC[C/T]GGGGCTTAGGTCGGC | 326 |
rs552196958 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288740 | GTGCATGGGCCCTCC[G/T]GGGCCATGGGGTTGC | 326 |
rs552214575 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287896 | CATAGCTTCCTCCAG[A/G]AAATCATCCCTGGCC | 326 |
rs552357718 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295791 | GACCGGGGAGCATCC[A/C]GGGGCTTTCCCCTCC | 326 |
rs552461392 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284607 | TGGCTGCCCAAAAGC[A/G]AACGGCACGCCTGCC | 326 |
rs552522711 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284988 | ACTGTCCCCACTCAC[A/G]TCCACCTGGGACCCT | 326 |
rs552696649 | snp | C/T | 1.73628e-05 | 0.00294637 | intron-variant | AIRE | GRCh38.p7 | 21:44290783 | TCCCTGGGCCTGGCC[C/T]CACTGCCCTGTGAGG | 326 |
rs552736654 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287213 | CGCCCCCTCCCCACC[C/G]GGGCTCCCACCCACT | 326 |
rs552934819 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44294682 | CTTTAAACCAATTCT[C/T]TTTGGCAACTTAAAT | 326 |
rs553396434 | snp | A/G | 0.000102487 | 0.00715772 | missense | AIRE | GRCh38.p7 | 21:44293822 | CGTTGCGGGGTGTGC[A/G]GAGATGGTACGGACG | 326 |
rs553452692 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44286195 | AGCCAGGGATAGTCC[C/T]CGGGGAAGTTCCAGG | 326 |
rs553477395 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289569 | GAACTCCACCTGTCT[C/T]TGCTAGACCCCACCC | 326 |
rs553622381 | snp | C/G | 0.000399281 | 0.0141238 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297897 | CCAGCCATCATGTGC[C/G]TGGAAATTAAACCCT | 326 |
rs553685499 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | AIRE | GRCh38.p7 | 21:44293645 | TGTCCTGCAGCCTGC[A/G]TGGCACCGTGAGGCT | 326 |
rs553751029 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44292784 | CCGTGTGTAGACGGG[A/G]GAGGAGGGAGGACCA | 326 |
rs553881450 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296331 | TGCGGCCTCTGTACC[C/T]CCACCAGGGCTGTGG | 326 |
rs553933185 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | AIRE | GRCh38.p7 | 21:44288879 | TGCAGCATCCTCGCC[C/T]GCCATTCCCTGGCCA | 326 |
rs554062018 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296846 | GGGGGGTCCCAGACC[C/T]CGTCCCTCTAAGATT | 326 |
rs554125220 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44295924 | ATGGGGAATTCCACA[C/G]GGTTCAATGTAATAT | 326 |
rs554132699 | snp | C/T | 0.000103015 | 0.00717613 | missense | AIRE | GRCh38.p7 | 21:44293072 | GCATGGACACGACTC[C/T]TGTCTACAAGCACCT | 326 |
rs554372593 | snp | C/T | 0.000399281 | 0.0141238 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287123 | GACTCCAAGGGGCAC[C/T]GCCAGCCCAGGTACC | 326 |
rs554591629 | snp | C/T | 0.000161173 | 0.00897556 | missense | AIRE | GRCh38.p7 | 21:44292354 | GTCCAGGAGGTGCAG[C/T]CCCGGGCAGAGGAGC | 326 |
rs554680138 | snp | A/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44291724 | CCGAGCCCTGCCCCC[A/T]TTCCAACCCCACAGG | 326 |
rs554863665 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44294780 | ACAGCATGAGCCTGA[A/G]AGTCCTGCCAGGGCT | 326 |
rs554954634 | snp | A/C/G | 0.000197834 | 0.0099441 | missense | AIRE | GRCh38.p7 | 21:44293877 | CTGCCTTCCACTGGC[A/C/G]CTGCCACTTCCCAGC | 326 |
rs555065854 | snp | C/T | 0.000399281 | 0.0141238 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297846 | GCCACCTCTTGTCAG[C/T]GCTCGGCTGTAAACA | 326 |
rs555156451 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295079 | GGGGGAGGCCCGAGT[C/T]GCTGCTGCAGGAGCC | 326 |
rs555771623 | snp | C/T | 0.00199481 | 0.0315187 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285351 | CAACACCCAGGCTGC[C/T]GTACCGTCTCCTGCA | 326 |
rs555783232 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293627 | GGATGGGACTGGTCC[C/T]GCTGTCCTGCAGCCT | 326 |
rs555838786 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289550 | GGAGGAATGCAGGCT[A/G]TGGGAACTCCACCTG | 326 |
rs555869546 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293403 | TCCCCCCACAAGGCA[A/G]GACAATGAAGGGGGG | 326 |
rs555941224 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288801 | GACCCTCCAGGGTAT[C/T]GGCATTCTTCAACCA | 326 |
rs555981856 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44288860 | CCCCATACCCTGGCC[A/G]GCCTGCAGCATCCTC | 326 |
rs556004512 | snp | G/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284652 | GGTGGCGTCTCTCAC[G/T]GCATCAGTTAGCCCC | 326 |
rs556322158 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44292731 | ACTGTGCACAGACCC[A/G]GTGTTCCCTCTGACA | 326 |
rs556410662 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44295845 | CCATGCAGGGCTGCC[C/G]GGCCTCGCAGCGCCA | 326 |
rs556665590 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | AIRE | GRCh38.p7 | 21:44291353 | ACTGGGCCGTGGGGC[C/T]GGGGCCTGGGGTTTT | 326 |
rs556758490 | snp | G/T | 1.71155e-05 | 0.00292531 | intron-variant | AIRE | GRCh38.p7 | 21:44288484 | TGGCGGGGAGATGGG[G/T]CTGATGGGGAGACCC | 326 |
rs556919503 | snp | A/G | 1.68613e-05 | 0.00290351 | intron-variant | AIRE | GRCh38.p7 | 21:44290809 | TGAGGAAGGGTTCAT[A/G]TGGTTGGTGTACAGT | 326 |
rs556960998 | snp | C/G | 0 | 0 | intron-variant | AIRE | GRCh38.p7 | 21:44291702 | GGTGCTCCTTCCCCA[C/G]GGCCCACCGAGCCCT | 326 |
rs556979140 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44295022 | GGTGGCGCGGAGACC[C/T]CTGACTGCTGGGGCG | 326 |
rs557145353 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44286234 | GCCCCTCCAGATCCC[C/T]AAGCCCCTCCAGCCT | 326 |
rs557176517 | snp | A/G | 0.000104042 | 0.00721181 | intron-variant | AIRE | GRCh38.p7 | 21:44287594 | CCACTCGGGAACGGT[A/G]AGCGGGGCCCAGTGG | 326 |
rs557522986 | snp | A/G | 0.000188509 | 0.00970666 | missense | AIRE | GRCh38.p7 | 21:44293837 | GGAGATGGTACGGAC[A/G]TGCTGCGGTGTACTC | 326 |
rs557583159 | snp | A/G | 0.000399281 | 0.0141238 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298525 | GCATTGTGTTCATCT[A/G]TGCTTTCCTCAGCAG | 326 |
rs557600189 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44293683 | TGCGCCTAGACCCGC[C/T]GTCCAGCCCTGGGTG | 326 |
rs557914901 | snp | C/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285275 | CCGAGGCTCAGAGAA[C/G]GAAAGGACTTGCCTG | 326 |
rs557974720 | snp | G/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285588 | TCGGCTTTGCCCCAT[G/T]CGAGCAGGGCCCTCG | 326 |
rs558138567 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289189 | GGGCCACACTCCCTC[C/T]GGAGGCTCCAGGGAA | 326 |
rs558313647 | snp | A/G | 1.6686e-05 | 0.00288838 | intron-variant | AIRE | GRCh38.p7 | 21:44296449 | CTTCTGAGCGAGGTA[A/G]CGCCTCCCCTGGCCT | 326 |
rs558334814 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44292679 | ACGGCCCCGGAAGAT[G/T]TGTTCCTTGTTCTGC | 326 |
rs558470210 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44288559 | GGTCCCACAGCAGAC[C/T]GGACTGTTGCTCAGG | 326 |
rs558634238 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284155 | GTTGGAGCGGGGACC[A/G]GCAAGGCAGGCATGC | 326 |
rs558920105 | snp | C/T | 0.000798403 | 0.0199641 | utr-variant-5-prime | AIRE | GRCh38.p7 | 21:44285867 | AGCGGCGCGCGTGGC[C/T]CGCAGACCGGGGAGA | 326 |
rs559016102 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295103 | AGGAGCCTCCGGGGG[G/T]GTGGCCTCTTGCCCT | 326 |
rs559098504 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295502 | AGTCAGGAGCCCAGC[C/T]GGGCATATACGCAGA | 326 |
rs559403652 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44289497 | GTAGATCCAGGACAA[C/T]CCCCGGGCCCCAGAC | 326 |
rs559428418 | snp | C/T | 0.000195596 | 0.00988734 | missense | AIRE | GRCh38.p7 | 21:44293901 | TCCCAGCCGGCACCT[C/T]CCGGCCCGGGTGAGT | 326 |
rs559713686 | snp | A/C | 3.53201e-05 | 0.00420224 | intron-variant | AIRE | GRCh38.p7 | 21:44293749 | TTCAGCTACATTTCC[A/C]CCGGCCCCCCGCGTC | 326 |
rs559858056 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285406 | CTCCCACAGCCCCAG[A/G]CGGGCCCCTGAGTAG | 326 |
rs559907229 | snp | C/T | 1.67309e-05 | 0.00289226 | intron-variant | AIRE | GRCh38.p7 | 21:44296488 | TCCTCCACTCCCCCT[C/T]CCCTGCCTCAGCCGG | 326 |
rs560037773 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant | AIRE | GRCh38.p7 | 21:44297063 | GCCCTGTGCAGTGGC[C/T]GTGCCCCACACACCC | 326 |
rs560049642 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296162 | AGTGTGGAGGCTGTC[C/T]GGGGGCCGTGGGCAG | 326 |
rs560103155 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292433 | TCCTAGCCGGGCCAC[C/T]CCTCCTGTCCACATG | 326 |
rs560125637 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288216 | ATGGCAGGGCTGGGT[C/G]CCCTCCTTGGCCTGC | 326 |
rs560239538 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292155 | CTGGGCTCTCCCTTC[C/T]TGTGTCTCTGCCCAT | 326 |
rs560398982 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | AIRE | GRCh38.p7 | 21:44289285 | GGCTCAGGACCCACC[A/G]CTCCAGCCTCTGCTT | 326 |
rs560506659 | snp | G/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284302 | CACAGGAGCCAGCCT[G/T]TTCCAACCCTGCACT | 326 |
rs560760668 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44291567 | AGTCCCACTCCAGAC[A/G]GGGCTGGGGAGCACA | 326 |
rs560928264 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287413 | CAAAGGGACTACCCA[A/G]CACTGGACCGCCCCC | 326 |
rs561080499 | snp | C/T | 0.000399281 | 0.0141238 | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298088 | AGTGAGCTGAGATTG[C/T]GCCACTGCACTCCAG | 326 |
rs561138771 | snp | A/C | 0.00557542 | 0.0525036 | intron-variant | AIRE | GRCh38.p7 | 21:44293961 | ACACCCACACCCTAC[A/C]CCCCACCCCACACTC | 326 |
rs561152124 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295245 | CTGTGCCTCCGCCCC[A/G]TATACACCGTGTGGG | 326 |
rs561345329 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293724 | AGAGCGCACAGGGCT[C/T]GGGTTCGGGTTCAGC | 326 |
rs561479459 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291418 | CCTGCTGCCCAGCCT[A/G]GACAGCTGGGCCCCT | 326 |
rs561484024 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | AIRE | GRCh38.p7 | 21:44293456 | CCCTCCCCTCCCTGC[C/T]TCAATTCCCTTCCCT | 326 |
rs561525723 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291681 | CCTCCTCTGCGTTCA[C/T]ATCCCGGTGCTCCTT | 326 |
rs561652010 | snp | A/G | 0.000222025 | 0.0105339 | missense | AIRE | GRCh38.p7 | 21:44294477 | CTGGCCCCCAGCCCC[A/G]CCCGCCTGGCCCCTG | 326 |
rs561797366 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285780 | GGGAAGTGTCCCTGC[A/G]GGAGGCCCTGGCCCT | 326 |
rs561857887 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44297268 | TGGCCCCATCCTGTG[A/G]GAGCATCAGGCTCCT | 326 |
rs561898981 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44286286 | GGAGCCAGGGGCGTC[C/T]CTGATGACAAGTTAG | 326 |
rs561911536 | snp | A/C | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284790 | TGCCCAGAGACCTCT[A/C]GTGGTTCTCTGCAGC | 326 |
rs562074996 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284228 | CAGGGAGTGAGAGAC[A/G]CCCAGGCCTGGGCAG | 326 |
rs562167505 | snp | G/T | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44296968 | TTGCCAAGAGGATAA[G/T]CTCCTTCAGCCTCCA | 326 |
rs562176282 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284473 | CCCTAGAGTCTTTTC[C/T]GGAGCAATCTCAGAC | 326 |
rs562210054 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44286749 | GGGTCCTGGTGGACT[C/T]AGCCATGCTGGGGGC | 326 |
rs562620111 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | AIRE | GRCh38.p7 | 21:44295779 | GAGCATCCTTAGGAC[C/T]GGGGAGCATCCAGGG | 326 |
rs562704578 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288667 | TTCTGCAAGGCCAGC[A/G]GTCCAGGCCCACATC | 326 |
rs562805290 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296035 | TGGTGCTTGTCGGGG[G/T]CGGGGGTGGCATGGA | 326 |
rs562919523 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44288132 | CACCCCCCAGCACAC[A/G]CACACTTGGGTGCAC | 326 |
rs563203914 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44286452 | GGAGCTGTCCAGGTC[A/G]CCAGCGCCTCTGCCT | 326 |
rs563733908 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296893 | CTCAGGCCTCTCTAC[A/G]CTAAGATGGGCAGGT | 326 |
rs563739222 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44290466 | TGGGGGGTGCCTGCC[A/G]TGGTGGGTTACAGAT | 326 |
rs563869880 | snp | A/C/T | 3.63863e-05 | 0.00426522 | intron-variant | AIRE | GRCh38.p7 | 21:44293922 | CCGGGTGAGTGAGCG[A/C/T]GGTCGGCGGGGAGGC | 326 |
rs563933852 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | AIRE | GRCh38.p7 | 21:44293448 | CGTGGGAGCCCTCCC[C/T]TCCCTGCCTCAATTC | 326 |
rs564103678 | snp | A/G | 0.00100674 | 0.0224134 | intron-variant | AIRE | GRCh38.p7 | 21:44293182 | GGTCAGCAGGTGAGC[A/G]GGGAGTGGGGGTCAG | 326 |
rs564147500 | snp | C/T | 0.00279162 | 0.0372561 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284408 | CCAGGCTGACCACCT[C/T]GGCCACCACCTCTGG | 326 |
rs564253769 | snp | C/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285462 | CCCAGGAACACCACC[C/G]CGATCCAGCCTCCAT | 326 |
rs564316895 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288633 | AGGGTGAGCACTGAA[A/G]TCTCCCTGTCGGGGG | 326 |
rs564348883 | snp | G/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285743 | CCGAGAGCGAGGGAG[G/T]GACAGCAGCGCCTCC | 326 |
rs564408692 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284773 | CTCAGTGGGAACACT[C/T]GTGCCCAGAGACCTC | 326 |
rs564572708 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288284 | CCTGCTTCTGGCATA[C/G]AGTATGTGCTTGGGA | 326 |
rs564774278 | in-del | -/C | 0.314787 | 0.241459 | intron-variant | AIRE | GRCh38.p7 | 21:44296656 | GCCCCCTTGCAGGAG[-/C]CCCCCCCCGGCCCCT | 326 |
rs565019842 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44291675 | GGGAGGCCTCCTCTG[C/T]GTTCACATCCCGGTG | 326 |
rs565068419 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295582 | GTACCTCGTCATTAA[C/T]CTCCTGGGTTCTGTC | 326 |
rs565087801 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44294519 | GTCAGTGCCGCAGGG[A/G]CCCTCCATGCATGCC | 326 |
rs565093611 | snp | A/C | 0.00199481 | 0.0315187 | intron-variant | AIRE | GRCh38.p7 | 21:44295974 | GTGCCTGCCTGGGGA[A/C]CTTCTCCCACTCTGG | 326 |
rs565153757 | snp | C/T | 0.00013258 | 0.00814078 | intron-variant | AIRE | GRCh38.p7 | 21:44290979 | GAGCAGGGCAGAGAC[C/T]GGGGAGTTCAGGTAC | 326 |
rs565268108 | snp | A/C | | | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298186 | TTATCATCTCGACCA[A/C]TTTTCAGTTCAGTGG | 326 |
rs565299355 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44294824 | AAGGGAGAGCGGGAG[C/T]GCCCGGCCTGCAGGA | 326 |
rs565329107 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44291851 | CCTCTCAGCCTTGTG[C/T]CTCATCACTAGAATA | 326 |
rs565471536 | snp | C/T | 0.00119737 | 0.0244387 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285558 | ACCCGAGCCTCCCCG[C/T]CGAGGGCACCTGTCT | 326 |
rs565487359 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287677 | GCCTGCCCTCTGAGA[C/T]CCTGTCCTAGGGGCT | 326 |
rs565602272 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44291465 | AACAGAGGCCCAGGG[C/T]GAAGATGCCACCCTG | 326 |
rs565737422 | snp | A/G | 0.000798403 | 0.0199641 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297995 | AAATTAGCTGGGTGT[A/G]GTGGTGGGTGCCTGT | 326 |
rs565892460 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289171 | CAACATCGAGGTGTC[G/T]CGGGGCCACACTCCC | 326 |
rs566223161 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296639 | CCCACAGGAGCCCCC[A/C]TAGCCCCCTTGCAGG | 326 |
rs566298442 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292668 | GAGCATTGATAACGG[C/T]CCCGGAAGATGTGTT | 326 |
rs566486938 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44295759 | GCAGCTCTCCCACCC[C/G]CTGGGAGCATCCTTA | 326 |
rs566541385 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44295462 | CTTCCTTCTAGAAGC[C/T]TCCCTCCTCACACCA | 326 |
rs566659101 | snp | C/T | 0.000597907 | 0.0172799 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287560 | GAAGCCGGAGAGCAG[C/T]GCAGAGCAGCAGCGC | 326 |
rs566668418 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284543 | AGGAGAAACCGAGAC[C/T]GACCCCTGGTCTAGA | 326 |
rs566707997 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44297216 | CTCACAGCCTCTCCC[A/G]GGTGGCGGTCTTATT | 326 |
rs566805799 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284052 | TTGCAGTTATTTAAA[C/T]ATTTTTGCTGTAAAT | 326 |
rs567010139 | snp | A/C | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285261 | TAAAGATGAGGGAAC[A/C]GAGGCTCAGAGAAGG | 326 |
rs567075906 | snp | A/G | 7.38293e-05 | 0.0060753 | intron-variant | AIRE | GRCh38.p7 | 21:44291233 | TGCACCTCTGCCAGC[A/G]CAACCAGGCCACCCC | 326 |
rs567119891 | snp | A/G | 0.000399281 | 0.0141238 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298440 | CCCCAAGGTTCATCC[A/G]TGTTGTAGCATGTGC | 326 |
rs567139069 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291628 | GTGGGAGTTTGTCCA[C/T]CAATGCACAGGACGC | 326 |
rs567147078 | snp | A/G | 3.76138e-05 | 0.00433653 | intron-variant | AIRE | GRCh38.p7 | 21:44287179 | GTCTCCAGTCTTCCC[A/G]GGCTTCCCCGGGAGC | 326 |
rs567301273 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44294896 | CCCAGCCCTCCCTGG[G/T]GCCAGGATCCACCCC | 326 |
rs567631944 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44297198 | GGAGAAATGAGCGAC[A/G]GGCTCACAGCCTCTC | 326 |
rs567800468 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44293628 | GATGGGACTGGTCCC[A/G]CTGTCCTGCAGCCTG | 326 |
rs567846715 | snp | A/G | 3.55885e-05 | 0.00421817 | intron-variant | AIRE | GRCh38.p7 | 21:44286515 | GGCAGGCCGCAGGGT[A/G]TGGGGGACCATGGCA | 326 |
rs567852341 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289086 | GGATGGTCCCAAGGC[C/T]CACTGTGTTACTTCC | 326 |
rs567985727 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44290495 | ATCTTGACCACTTGG[C/T]ACCAGGGGCTCTGTG | 326 |
rs568328730 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44293284 | AGGCGAGAAAGGCTC[C/T]GGGAGGCACAGGGCC | 326 |
rs568340586 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44288876 | GCCTGCAGCATCCTC[A/G]CCCGCCATTCCCTGG | 326 |
rs568590932 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296574 | TGGAAACTCAGGCTG[C/T]CCCTGCTCCACCCAC | 326 |
rs568895777 | snp | A/C/T | 0.000552384 | 0.0166098 | intron-variant | AIRE | GRCh38.p7 | 21:44292295 | TGACTGGTGGACACA[A/C/T]GAGCAGTGGGACCTG | 326 |
rs569158369 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288028 | ACTCTGTGTCCCTCC[C/T]GGCACAATACAGGGC | 326 |
rs569160989 | snp | G/T | 0.00011129 | 0.00745874 | intron-variant | AIRE | GRCh38.p7 | 21:44287503 | GCCAGGCTGCCCCCA[G/T]CTCCCCCATTCAGGC | 326 |
rs569211153 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292643 | GCGGGTCCACCCCGG[A/G]GGGCACTATGAGCAT | 326 |
rs569224551 | snp | A/C | 5.35404e-05 | 0.00517371 | intron-variant | AIRE | GRCh38.p7 | 21:44287138 | CGCCAGCCCAGGTAC[A/C]CTCCCTGCAGGGGAA | 326 |
rs569473425 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44294345 | CACACCCCATACCCC[A/G]GAGGTGGCACTCCTG | 326 |
rs569787298 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44296335 | GCCTCTGTACCCCCA[C/T]CAGGGCTGTGGGAGT | 326 |
rs570139539 | snp | A/C | 0.00159617 | 0.0282053 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285589 | CGGCTTTGCCCCATT[A/C]GAGCAGGGCCCTCGC | 326 |
rs570211001 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | AIRE | GRCh38.p7 | 21:44296671 | GCCCCCCCCGGCCCC[C/T]CCCCCTGCGGGAGCC | 326 |
rs570236021 | snp | A/C/G | 0.000399281 | 0.0141238 | utr-variant-5-prime | AIRE | GRCh38.p7 | 21:44285919 | CGGAGGCCCCACAGC[A/C/G]CCGCCGGGACCCGAG | 326 |
rs570281396 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289529 | CGACTGGGGTGGGGG[C/T]GGGCTGGAGGAATGC | 326 |
rs570398695 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44290264 | ATAGTTTAAATGAGT[C/T]AGAGAAAGTGAGGTC | 326 |
rs570431939 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289012 | GACACGGTGTCTCCT[C/T]GGTGCTGGACATGGG | 326 |
rs570507121 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44283843 | TCCCAAAGCTGTGTG[C/T]GCTGGTTCCCTGGCA | 326 |
rs570732500 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44296258 | CCACCCCCAGTGGAG[A/C]TGGGTGTAAGAATTC | 326 |
rs571123523 | in-del | -/C | 0.00478085 | 0.0486577 | intron-variant | AIRE | GRCh38.p7 | 21:44295682 | GGCTGGCCTTGGCCT[-/C]CCCCCCTCAGCCTGC | 326 |
rs571360161 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44287982 | ACTGGACTCCAGAGA[C/T]CCCCTATCTCCCTGA | 326 |
rs571447159 | snp | C/G | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298338 | CACTCTACTTTCTGT[C/G]TCTATGACTTCTCCA | 326 |
rs571510432 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44295497 | TCTGGAGTCAGGAGC[C/T]CAGCCGGGCATATAC | 326 |
rs571718607 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44294734 | CCCGAGGGTTGGTGG[C/T]TGACGTCACGGTTGG | 326 |
rs571756162 | snp | A/C | 0.00953873 | 0.0683987 | intron-variant | AIRE | GRCh38.p7 | 21:44294017 | CCACACCCCACCCAC[A/C]CCCCACACTCCCACC | 326 |
rs571989183 | snp | C/T | | | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297940 | TACTCTGGAAGTCCC[C/T]GGGAGCCTCTCCTTG | 326 |
rs571992581 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44296848 | GGGGTCCCAGACCCC[A/G]TCCCTCTAAGATTTG | 326 |
rs572002344 | snp | A/C/T | 7.07168e-05 | 0.00594593 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287093 | AGAGGCTCGAGCTGC[A/C/T]GCGCCAGCAGCCCTG | 326 |
rs572126327 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288561 | TCCCACAGCAGACCG[G/T]ACTGTTGCTCAGGTA | 326 |
rs572163958 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44293652 | CAGCCTGCGTGGCAC[C/T]GTGAGGCTCCTCACT | 326 |
rs572223355 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289590 | GACCCCACCCTGGGG[C/T]CTACACGACTGCCAA | 326 |
rs572307574 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44292833 | CAGCCTTTCCCACTC[A/G]GTGTGGACGCCTTCC | 326 |
rs572435584 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284353 | CACTGAGATGGACCC[C/T]CTCCCCCTCAGCTCC | 326 |
rs572450161 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288898 | ATTCCCTGGCCAGCC[A/G]CTGACCCCATGCAAT | 326 |
rs572483548 | snp | A/C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44295564 | CAACTGCTCCCGCAG[A/C/T]GGGTACCTCGTCATT | 326 |
rs572667922 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285574 | CGAGGGCACCTGTCT[C/T]GGCTTTGCCCCATTC | 326 |
rs572680101 | snp | G/T | 5.58925e-05 | 0.00528612 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293088 | TGTCTACAAGCACCT[G/T]CCGGCTCCGCCTTCT | 326 |
rs572955978 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291811 | GAGGCTCTGCCCCAG[A/C]CCCTGAGTGGCCGTC | 326 |
rs573019156 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287666 | GTCAGAGCAGGGCCT[A/G]CCCTCTGAGACCCTG | 326 |
rs573261015 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44295559 | TCCTGCAACTGCTCC[C/T]GCAGCGGGTACCTCG | 326 |
rs573444005 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44291429 | GCCTGGACAGCTGGG[C/T]CCCTGAGGGCAGCAA | 326 |
rs573486913 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44294789 | GCCTGAGAGTCCTGC[C/G]AGGGCTCCCTGGTGG | 326 |
rs573581804 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44290324 | GTCCAGGCTGTACCC[A/G]CTGCTCTCAGCTGGG | 326 |
rs573648397 | snp | C/G | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44297334 | CTGAAGGAGCCACCC[C/G]AGGAGGCAGAACTGC | 326 |
rs573686372 | snp | C/T | 0.00438332 | 0.0466095 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297850 | CCTCTTGTCAGTGCT[C/T]GGCTGTAAACAGCTC | 326 |
rs573726024 | in-del | -/A | | | intron-variant | AIRE | GRCh38.p7 | 21:44296730 | CCAACAAGAGCCCCC[-/A]ACACGGCCCCTCCCC | 326 |
rs573912206 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285353 | ACACCCAGGCTGCCG[C/T]ACCGTCTCCTGCATC | 326 |
rs574044343 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44289557 | TGCAGGCTGTGGGAA[C/G]TCCACCTGTCTCTGC | 326 |
rs574160382 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44293414 | GGCAGGACAATGAAG[C/G]GGGGGATGTCCCAGC | 326 |
rs574512013 | snp | C/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284675 | TTAGCCCCCAGCCCA[C/G]TGCTGCCTGGATTCA | 326 |
rs574598107 | snp | C/T | 5.10174e-05 | 0.00505035 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297739 | CTGACCCCAGATGGC[C/T]GGGACATGCAGCTCT | 326 |
rs574831665 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44292770 | GGCCAGGGGGCCCCC[C/T]GTGTGTAGACGGGGG | 326 |
rs574896544 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288540 | CGCCCCTTTGCATCC[C/T]GGTGGTCCCACAGCA | 326 |
rs575140436 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287396 | GAGAAACCAGAGCCC[A/G]GCAAAGGGACTACCC | 326 |
rs575144370 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44287598 | TCGGGAACGGTGAGC[A/G]GGGCCCAGTGGGAGC | 326 |
rs575387818 | snp | C/G/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44294743 | TGGTGGCTGACGTCA[C/G/T]GGTTGGCTGTGTGGC | 326 |
rs575605392 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | AIRE | GRCh38.p7 | 21:44297252 | GGCATCGTGGGGCCC[A/G]TGGCCCCATCCTGTG | 326 |
rs575870442 | snp | C/T | 0.000341355 | 0.0130599 | synonymous-codon | AIRE | GRCh38.p7 | 21:44294434 | ATCCTGCTCAGGAGA[C/T]GTGACCCCAGCCCCT | 326 |
rs575918732 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44293697 | CCGTCCAGCCCTGGG[C/T]GGTCCCAGGGGAGAG | 326 |
rs576067406 | in-del | -/G | 0.00358779 | 0.0422022 | intron-variant | AIRE | GRCh38.p7 | 21:44296522 | CAGGCTCCCCACTCT[-/G]GGGGGAGGACTGCCG | 326 |
rs576198449 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44286279 | CCCACAAGGAGCCAG[C/G]GGCGTCCCTGATGAC | 326 |
rs576465780 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44293359 | GCTCCTAGACCTCCA[C/T]TCCAGCTCCTGGCCC | 326 |
rs576672065 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44286340 | GTCCCCACACCTCAC[C/G]CCCAAGCCAAGGGAA | 326 |
rs576883155 | snp | G/T | 0.0134861 | 0.0810011 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284783 | ACACTCGTGCCCAGA[G/T]ACCTCTCGTGGTTCT | 326 |
rs576899542 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284199 | CCCTCTCGGGGTCTT[C/T]GGAAGGCGCAGTGCA | 326 |
rs577106882 | snp | G/T | 0.00159617 | 0.0282053 | intron-variant | AIRE | GRCh38.p7 | 21:44295104 | GGAGCCTCCGGGGGG[G/T]TGGCCTCTTGCCCTG | 326 |
rs577234426 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | AIRE | GRCh38.p7 | 21:44286785 | GCAGCTGCTGTCACC[C/T]GCTCAGCCCAGCTGG | 326 |
rs577321434 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287696 | GTCCTAGGGGCTGGG[A/G]ACGTGCTGGCCTGGT | 326 |
rs577381404 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44288126 | CACTGCCACCCCCCA[A/G]CACACGCACACTTGG | 326 |
rs577524996 | snp | C/T | 1.73375e-05 | 0.00294422 | intron-variant | AIRE | GRCh38.p7 | 21:44290784 | CCCTGGGCCTGGCCC[C/T]ACTGCCCTGTGAGGA | 326 |
rs577544633 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44287227 | CCGGGCTCCCACCCA[A/C]TGGGTGTGGGGCCAG | 326 |
rs577712707 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | AIRE | GRCh38.p7 | 21:44294374 | TGCTCCCCCCCAGGG[C/T]TGGCAGCCCCTCATC | 326 |
rs577794532 | snp | C/T | 0.000399281 | 0.0141238 | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298462 | AGCATGTGCCGAAAT[C/T]TGCTTCCTTTTTTAA | 326 |
rs577844166 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44296880 | TTGCCCCTCCCAACT[C/T]AGGCCTCTCTACGCT | 326 |
rs578064722 | snp | C/G | 0.00676609 | 0.0577691 | intron-variant | AIRE | GRCh38.p7 | 21:44286198 | CAGGGATAGTCCCCG[C/G]GGAAGTTCCAGGAGG | 326 |
rs578165772 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285689 | CAGCCCCCAAGGCAG[C/T]TGCCCTGGTGGGTGA | 326 |
rs745382967 | snp | C/T | 1.72359e-05 | 0.00293558 | missense | AIRE | GRCh38.p7 | 21:44292993 | ACCCTTGGGTTCCAG[C/T]TCCCCCCGGGGCTTA | 326 |
rs745383661 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44287964 | CTCCTTCCTTCCCAG[A/G]GCACTGGACTCCAGA | 326 |
rs745459635 | snp | A/G | 4.9958e-05 | 0.00499765 | missense | AIRE | GRCh38.p7 | 21:44288425 | GCCCGAGGGGCCGTG[A/G]AGGGGATCCTCATCC | 326 |
rs745544348 | snp | C/T | 6.89037e-05 | 0.00586917 | utr-variant-5-prime | AIRE | GRCh38.p7 | 21:44285994 | CCCAGCCCCGGGTCC[C/T]CGCGCCCACCCCATG | 326 |
rs745574862 | snp | G/T | | | utr-variant-5-prime | AIRE | GRCh38.p7 | 21:44285844 | TTGCGTGGTCGCGGG[G/T]GTATAACAGCGGCGC | 326 |
rs745584597 | snp | G/T | 1.77972e-05 | 0.002983 | intron-variant | AIRE | GRCh38.p7 | 21:44292942 | CACTGACTCCTGGGT[G/T]GTGCCGGGCAGGCGC | 326 |
rs745633761 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44289426 | TTTCAAGTAAGGTCA[C/T]ACTCTGAGGTTCTGG | 326 |
rs745653031 | snp | A/C | 1.6631e-05 | 0.00288362 | missense | AIRE | GRCh38.p7 | 21:44288371 | ATGTCAGCTTCAGTC[A/C]AGAGAGCTGTGGCCA | 326 |
rs745665855 | snp | A/C | 1.65853e-05 | 0.00287964 | intron-variant | AIRE | GRCh38.p7 | 21:44291056 | AGGAGGGTGCTGCAC[A/C]CCAGCCCAGTCTGCA | 326 |
rs745741207 | snp | C/T | 6.62142e-05 | 0.0057535 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293163 | ACTGTGTGTGGGTCC[C/T]GAGGGTCAGCAGGTG | 326 |
rs745835455 | snp | A/G | 1.65734e-05 | 0.00287862 | intron-variant | AIRE | GRCh38.p7 | 21:44290960 | TCAGGCCCTGGCAGC[A/G]TGGGAGCAGGGCAGA | 326 |
rs745946632 | snp | C/G | 0.000210036 | 0.0102461 | intron-variant | AIRE | GRCh38.p7 | 21:44297610 | ATGATTCTGTGGCTG[C/G]GGCGGGGGCGCACCT | 326 |
rs745957880 | snp | C/G | 1.69329e-05 | 0.00290967 | intron-variant | AIRE | GRCh38.p7 | 21:44286760 | GACTCAGCCATGCTG[C/G]GGGCCTGGGGCAGCT | 326 |
rs746041242 | snp | C/T | 1.68035e-05 | 0.00289853 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289727 | CGAAGACTCCGGCAG[C/T]GGGAAGAACAAGGCC | 326 |
rs746054293 | snp | C/G | 8.15627e-05 | 0.00638551 | synonymous-codon | AIRE | GRCh38.p7 | 21:44292320 | GACCTGGAGGTGCTC[C/G]AGCTGCCTGCAGGCA | 326 |
rs746101086 | in-del | -/C | 0.000102675 | 0.00716427 | frameshift-variant | AIRE | GRCh38.p7 | 21:44287536 | CAACTGAAGGCCAAG[-/C]CCCCCCAAGAAGCCG | 326 |
rs746154390 | snp | A/G | 3.43224e-05 | 0.00414247 | missense | AIRE | GRCh38.p7 | 21:44289794 | AAGGGAGCCCAGGGC[A/G]CTGCCCCCGTAAGCA | 326 |
rs746399817 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44287380 | TTTCCCTTTTACTGA[C/T]GAGAAACCAGAGCCC | 326 |