SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs746809771 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44286386 | CCCAGCCCCACCCTC[A/G]ACACCCCTACACCAC | 326 |
rs746833159 | snp | C/T | 0.00010992 | 0.0074127 | missense | AIRE | GRCh38.p7 | 21:44293150 | CCCTGCACCCCCTAC[C/T]GTGTGTGGGTCCTGA | 326 |
rs746856788 | snp | C/G/T | 6.6676e-05 | 0.00577358 | synonymous-codon | AIRE | GRCh38.p7 | 21:44296406 | TGCCAGTCACGAGCC[C/G/T]GCTCTGCACAGGGAT | 326 |
rs746873146 | snp | A/C/T | 8.34096e-05 | 0.00645745 | missense, synonymous-codon | AIRE | GRCh38.p7 | 21:44296442 | GGAGTCCCTTCTGAG[A/C/T]GAGGTAACGCCTCCC | 326 |
rs746933095 | in-del | -/TG | 1.69928e-05 | 0.00291481 | frameshift-variant | AIRE | GRCh38.p7 | 21:44293040 | GGTAAGAGGTCCACC[-/TG]GGGAACCCCTAGCCG | 326 |
rs746965561 | snp | A/G | 3.35621e-05 | 0.00409633 | intron-variant | AIRE | GRCh38.p7 | 21:44286734 | AGCTTCCCCAAAGGT[A/G]GGTCCTGGTGGACTC | 326 |
rs747034666 | snp | A/C/T | 3.68399e-05 | 0.00429169 | intron-variant | AIRE | GRCh38.p7 | 21:44291232 | CTGCACCTCTGCCAG[A/C/T]GCAACCAGGCCACCC | 326 |
rs747099392 | snp | A/G | 1.67801e-05 | 0.00289651 | missense | AIRE | GRCh38.p7 | 21:44289714 | CTCCCAGCAAGTTCG[A/G]AGACTCCGGCAGTGG | 326 |
rs747117623 | snp | A/G | 3.33622e-05 | 0.00408412 | intron-variant | AIRE | GRCh38.p7 | 21:44296343 | ACCCCCACCAGGGCT[A/G]TGGGAGTTGGGCTGA | 326 |
rs747182922 | snp | C/T | 1.73785e-05 | 0.0029477 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293860 | GTGTACTCACTGCGC[C/T]GCTGCCTTCCACTGG | 326 |
rs747297616 | snp | A/C | 1.91782e-05 | 0.00309657 | intron-variant | AIRE | GRCh38.p7 | 21:44291245 | AGCGCAACCAGGCCA[A/C]CCCGGTTCACGGCCG | 326 |
rs747311138 | in-del | -/TTGGGAACCTGCTCCTGCCCCTGAGC | 5.22689e-05 | 0.00511192 | intron-variant | AIRE | GRCh38.p7 | 21:44286946 | GAGAAAACCCTGAGG[-/TTGGGAACCTGCTCCTGCCCCTGAGC]TTGGGACCCTGCTCC | 326 |
rs747377103 | snp | C/T | 1.70828e-05 | 0.00292252 | missense | AIRE | GRCh38.p7 | 21:44293817 | GTGCGCGTTGCGGGG[C/T]GTGCGGAGATGGTAC | 326 |
rs747570743 | snp | A/G | 5.20766e-05 | 0.00510251 | intron-variant | AIRE | GRCh38.p7 | 21:44290118 | GCCCTTGCTCCCCTC[A/G]GGTGGGTCCTGCTGC | 326 |
rs747574854 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44294759 | GGTTGGCTGTGTGGC[C/T]GCCTCACAGCATGAG | 326 |
rs747601499 | snp | A/C | 1.77429e-05 | 0.00297845 | missense | AIRE | GRCh38.p7 | 21:44287122 | TGACTCCAAGGGGCA[A/C]CGCCAGCCCAGGTAC | 326 |
rs747673176 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295402 | CCAGCCCTGCCCTTG[A/G]GGCTTTTGTGGAACA | 326 |
rs747761045 | snp | A/C | 0.000152271 | 0.00872423 | missense | AIRE | GRCh38.p7 | 21:44293093 | ACAAGCACCTGCCGG[A/C]TCCGCCTTCTGCAGC | 326 |
rs747793451 | snp | A/C | 3.53713e-05 | 0.00420528 | intron-variant | AIRE | GRCh38.p7 | 21:44290766 | TGAGGTCGGGAGAGA[A/C]CTCCCTGGGCCTGGC | 326 |
rs747802771 | snp | C/T | 1.6727e-05 | 0.00289193 | intron-variant | AIRE | GRCh38.p7 | 21:44290835 | ACAGTTCCGGGGCCC[C/T]TGGAACGCAGCAGCC | 326 |
rs747830655 | snp | A/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285723 | AGGCCAGGCCCGGAG[A/T]CTTCCCGAGAGCGAG | 326 |
rs747941115 | snp | C/G | 1.67447e-05 | 0.00289345 | missense | AIRE | GRCh38.p7 | 21:44286597 | AGGGCTGCCCCCAGG[C/G]CTTCCACGCCCTCCT | 326 |
rs747951616 | snp | A/G | 1.66715e-05 | 0.00288712 | missense | AIRE | GRCh38.p7 | 21:44296416 | GAGCCCGCTCTGCAC[A/G]GGGATGACCTGGAGT | 326 |
rs748054478 | snp | A/G | 1.77972e-05 | 0.002983 | intron-variant | AIRE | GRCh38.p7 | 21:44286517 | CAGGCCGCAGGGTGT[A/G]GGGGACCATGGCAGG | 326 |
rs748154226 | snp | C/T | 3.33639e-05 | 0.00408422 | intron-variant | AIRE | GRCh38.p7 | 21:44296336 | CCTCTGTACCCCCAC[C/T]AGGGCTGTGGGAGTT | 326 |
rs748197699 | in-del | -/AGA | 1.73183e-05 | 0.00294259 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297770 | GATGAGAGAGTGCTG[-/AGA]AGGACACCTCCTTCC | 326 |
rs748305262 | snp | A/G | 0.000123803 | 0.00786677 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287096 | GGCTCGAGCTGCCGC[A/G]CCAGCAGCCCTGACT | 326 |
rs748426061 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44291345 | GTCAGGTCACTGGGC[C/T]GTGGGGCCGGGGCCT | 326 |
rs748444068 | snp | A/C/G/T | 8.53932e-05 | 0.00653384 | missense | AIRE | GRCh38.p7 | 21:44293816 | GGTGCGCGTTGCGGG[A/C/G/T]TGTGCGGAGATGGTA | 326 |
rs748448993 | snp | A/G | 1.65745e-05 | 0.00287871 | missense | AIRE | GRCh38.p7 | 21:44290024 | GGCCAGCAGGGCAGC[A/G]TTCCCGCCCCTCTGG | 326 |
rs748469608 | snp | C/T | 1.67899e-05 | 0.00289736 | missense | AIRE | GRCh38.p7 | 21:44297684 | GCATCCTGCAGTGGG[C/T]CATCCAGAGCATGGC | 326 |
rs748479091 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44290439 | TGGTTTCTTAATGGG[A/G]TAGAAGCAGTGTGGG | 326 |
rs748548018 | in-del | -/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44292418 | TATGGCCACGCCCCC[-/T]CCTAGCCGGGCCACC | 326 |
rs748736303 | snp | C/T | 4.25125e-05 | 0.00461025 | intron-variant | AIRE | GRCh38.p7 | 21:44289945 | CCATGTGCACCCTCG[C/T]TGCTGAGGCTGCCCC | 326 |
rs748752780 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285767 | CGCCTCCATCACAGG[A/G]AAGTGTCCCTGCGGG | 326 |
rs748755762 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284848 | TGACCGCACAGACAA[A/G]GGGACTGTTACCAAG | 326 |
rs748780013 | snp | A/G | 1.73294e-05 | 0.00294353 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297771 | ATGAGAGAGTGCTGA[A/G]AAGGACACCTCCTTC | 326 |
rs748911992 | snp | A/C | 0.000324465 | 0.0127329 | intron-variant | AIRE | GRCh38.p7 | 21:44286169 | GCCCCCCGCTGCCCC[A/C]AGGCCCTGTGAGCCA | 326 |
rs748918175 | snp | C/T | 1.72006e-05 | 0.00293258 | missense | AIRE | GRCh38.p7 | 21:44292997 | TTGGGTTCCAGCTCC[C/T]CCCGGGGCTTAGGTC | 326 |
rs748929295 | snp | C/T | 1.70179e-05 | 0.00291696 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293050 | CCACCTGGGGAACCC[C/T]TAGCCGGCATGGACA | 326 |
rs749029660 | snp | A/G | 0.000183874 | 0.00958662 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286015 | CCACCCCATGGCGAC[A/G]GACGCGGCGCTACGC | 326 |
rs749053452 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44294988 | CCTGTCCTCCTGCTC[C/T]GGGGTCAGAGAGGAC | 326 |
rs749100908 | snp | G/T | 1.70351e-05 | 0.00291843 | intron-variant | AIRE | GRCh38.p7 | 21:44289619 | AAGGCAGGTCCTGCT[G/T]GGCGGGTGAGCCAGG | 326 |
rs749111202 | snp | C/G | 6.57397e-05 | 0.00573285 | missense | AIRE | GRCh38.p7 | 21:44294456 | CCAGCCCCTGTGGAG[C/G]GGGTGCTGGCCCCCA | 326 |
rs749193829 | snp | C/G | 4.97938e-05 | 0.00498943 | intron-variant | AIRE | GRCh38.p7 | 21:44291075 | GCCCAGTCTGCATGG[C/G]CGTCTCTTGCCTGTG | 326 |
rs749284009 | snp | C/T | 1.67066e-05 | 0.00289016 | synonymous-codon | AIRE | GRCh38.p7 | 21:44291130 | CGTGTGTCGGGACGG[C/T]GGGGAGCTCATCTGC | 326 |
rs749304027 | in-del | -/GGTTCACG | 3.90533e-05 | 0.00441873 | intron-variant | AIRE | GRCh38.p7 | 21:44291248 | CAACCAGGCCACCCC[-/GGTTCACG]GGTTCACGGCCGCCT | 326 |
rs749396714 | snp | C/T | 1.7505e-05 | 0.00295841 | intron-variant | AIRE | GRCh38.p7 | 21:44293764 | CCCGGCCCCCCGCGT[C/T]ACCCCGCGCTGTTGC | 326 |
rs749442335 | snp | A/C | 2.11486e-05 | 0.00325174 | intron-variant | AIRE | GRCh38.p7 | 21:44289939 | CCACAGCCATGTGCA[A/C]CCTCGCTGCTGAGGC | 326 |
rs749505551 | in-del | -/GGCGGG | 2.3341e-05 | 0.00341613 | intron-variant | AIRE | GRCh38.p7 | 21:44297610 | TGATTCTGTGGCTGC[-/GGCGGG]GGCGGGGGCGCACCT | 326 |
rs749596534 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44292186 | CTCTCTGCTGTGCCT[C/T]GGTTCCCCCTCTGTG | 326 |
rs749631363 | snp | G/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285064 | GCCCCCGGAAGCTCC[G/T]GTCCAGGCCACAGCA | 326 |
rs749744291 | snp | A/C | 1.66576e-05 | 0.00288592 | intron-variant | AIRE | GRCh38.p7 | 21:44288334 | ACCCCAATGGGTGTT[A/C]CCTTTCCCAGGGATT | 326 |
rs749991784 | snp | A/G | 1.68513e-05 | 0.00290265 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286577 | GCTTCATCTGAAGGA[A/G]AAGGAGGGCTGCCCC | 326 |
rs750033525 | snp | C/G/T | 8.56163e-05 | 0.0065423 | missense, synonymous-codon | AIRE | GRCh38.p7 | 21:44293836 | CGGAGATGGTACGGA[C/G/T]GTGCTGCGGTGTACT | 326 |
rs750100732 | snp | A/G | 3.52051e-05 | 0.00419539 | intron-variant | AIRE | GRCh38.p7 | 21:44288508 | GAGACCCAGGCTCCA[A/G]GATGGAAGGAGGACC | 326 |
rs750112401 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44297480 | GATGGAATACGGTGA[A/G]GTGCACAGGACAGGG | 326 |
rs750115248 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44292656 | GGGGGGCACTATGAG[A/C]ATTGATAACGGCCCC | 326 |
rs750167585 | snp | C/T | 3.42079e-05 | 0.00413555 | missense | AIRE | GRCh38.p7 | 21:44293807 | CTGGCTCCTGGTGCG[C/T]GTTGCGGGGTGTGCG | 326 |
rs750231309 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44292640 | GCTGCGGGTCCACCC[C/T]GGGGGGCACTATGAG | 326 |
rs750333923 | snp | C/G | 5.0583e-05 | 0.00502881 | missense | AIRE | GRCh38.p7 | 21:44297658 | CTCTGTCCCGCAGCA[C/G]ACCTTCGATGGCATC | 326 |
rs750388714 | snp | C/G | 1.93928e-05 | 0.00311384 | splice-donor-variant | AIRE | GRCh38.p7 | 21:44290069 | CCCCAGCTCCACCAG[C/G]TAATGCCCTAGACCA | 326 |
rs750500741 | snp | C/T | 1.76052e-05 | 0.00296686 | intron-variant | AIRE | GRCh38.p7 | 21:44292962 | CGGGCAGGCGCCCGC[C/T]GCCCCTCTGATGCTG | 326 |
rs750624040 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44297068 | GTGCAGTGGCCGTGC[C/G]CCACACACCCTGACC | 326 |
rs750662701 | snp | A/G | 6.06263e-05 | 0.0055054 | missense | AIRE | GRCh38.p7 | 21:44294418 | CGGGCCTGCGCTGCA[A/G]ATCCTGCTCAGGAGA | 326 |
rs750688330 | snp | A/G | 2.14034e-05 | 0.00327128 | synonymous-codon | AIRE | GRCh38.p7 | 21:44292401 | ACCCGTGGAGACCCC[A/G]GTATGGCCACGCCCC | 326 |
rs750738695 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295164 | ATCCTGGCCACCGAG[C/G]AGCCTTTAGGGATCC | 326 |
rs750755686 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44288738 | ATGTGCATGGGCCCT[C/T]CTGGGCCATGGGGTT | 326 |
rs750764323 | in-del | -/C | 1.82197e-05 | 0.0030182 | frameshift-variant | AIRE | GRCh38.p7 | 21:44294487 | GCCCCGCCCGCCTGG[-/C]CCCTGGGCCTGCCAA | 326 |
rs750768166 | snp | G/T | 1.65743e-05 | 0.00287869 | intron-variant | AIRE | GRCh38.p7 | 21:44291009 | CCCAGAGATGCTGCT[G/T]GGGGAGCTGTTTTGG | 326 |
rs750913835 | snp | A/G/T | 3.32492e-05 | 0.00407722 | intron-variant | AIRE | GRCh38.p7 | 21:44290892 | TAGGGATGGCCCCGG[A/G/T]GGGTGTCTGTTGGAG | 326 |
rs751066946 | snp | G/T | 1.66438e-05 | 0.00288472 | missense | AIRE | GRCh38.p7 | 21:44291112 | GAATGAGGACGAGTG[G/T]GCCGTGTGTCGGGAC | 326 |
rs751158151 | in-del | -/GTACGGACGTGCTGCGGT | 1.70956e-05 | 0.00292361 | cds-indel | AIRE | GRCh38.p7 | 21:44293829 | GGGTGTGCGGAGATG[-/GTACGGACGTGCTGCGGT]GTACTCACTGCGCCG | 326 |
rs751183826 | snp | C/T | 1.69152e-05 | 0.00290814 | synonymous-codon | AIRE | GRCh38.p7 | 21:44297724 | GGCCCCCTTCCCCTC[C/T]TGACCCCAGATGGCC | 326 |
rs751271727 | snp | C/T | 3.4263e-05 | 0.00413888 | missense | AIRE | GRCh38.p7 | 21:44293799 | CACAGAACCTGGCTC[C/T]TGGTGCGCGTTGCGG | 326 |
rs751284359 | snp | C/G | 2.01481e-05 | 0.0031739 | missense | AIRE | GRCh38.p7 | 21:44289999 | GCAGGGTGGAGGTGA[C/G]GCTAGGCTGGGCCAG | 326 |
rs751368856 | snp | A/C | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298487 | TTTTAAGGCTGAGTA[A/C]TATTCCAGCACATGG | 326 |
rs751369006 | snp | A/G | 6.94119e-05 | 0.00589077 | missense | AIRE | GRCh38.p7 | 21:44286999 | ACCTCAGCCAGCCCC[A/G]GAAGGGGAGGAAGCC | 326 |
rs751437185 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44295118 | GGTGGCCTCTTGCCC[C/T]GACCGTCCCCAGCAG | 326 |
rs751449722 | snp | A/T | 0.000114201 | 0.00755562 | missense | AIRE | GRCh38.p7 | 21:44292396 | GAGCCACCCGTGGAG[A/T]CCCCGGTATGGCCAC | 326 |
rs751460610 | snp | A/C/G | 3.55646e-05 | 0.00421678 | synonymous-codon, missense | AIRE | GRCh38.p7 | 21:44287081 | GAAGGCCTCAGAAGA[A/C/G]GCTCGAGCTGCCGCG | 326 |
rs751624676 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44290811 | AGGAAGGGTTCATGT[A/G]GTTGGTGTACAGTTC | 326 |
rs751651125 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284611 | TGCCCAAAAGCAAAC[A/G]GCACGCCTGCCCACG | 326 |
rs751759051 | snp | A/G/T | 5.00207e-05 | 0.00500083 | intron-variant | AIRE | GRCh38.p7 | 21:44288316 | CAGTCTTCCCCACGG[A/G/T]TGACCCCAATGGGTG | 326 |
rs751778017 | snp | C/G | 1.66457e-05 | 0.00288489 | intron-variant | AIRE | GRCh38.p7 | 21:44290886 | TCCCAATAGGGATGG[C/G]CCCGGGGGGTGTCTG | 326 |
rs751912085 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295871 | CGCCAGTGTTCACCC[A/G]AGTGGAGGAGCTGGG | 326 |
rs751922515 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284573 | AGGAGAGGTGTCTGC[C/T]GCTCTCCATCCTGGA | 326 |
rs751963717 | snp | C/G | 3.11609e-05 | 0.00394708 | missense | AIRE | GRCh38.p7 | 21:44293120 | CAGCCCCGCTGCCAG[C/G]GCTGGACTCCTCGGC | 326 |
rs751968210 | snp | C/G/T | 3.33407e-05 | 0.00408282 | missense, synonymous-codon | AIRE | GRCh38.p7 | 21:44296400 | TGACACTGCCAGTCA[C/G/T]GAGCCCGCTCTGCAC | 326 |
rs752065208 | snp | C/T | 3.33011e-05 | 0.00408038 | missense | AIRE | GRCh38.p7 | 21:44286689 | GACTACAACCTGGAG[C/T]GCTATGGCCGGCTGC | 326 |
rs752100711 | in-del | -/G | 3.33e-05 | 0.00408031 | intron-variant | AIRE | GRCh38.p7 | 21:44290879 | GTTTTCTTCCCAATA[-/G]GGATGGCCCCGGGGG | 326 |
rs752157686 | snp | A/C | 5.46812e-05 | 0.00522854 | missense | AIRE | GRCh38.p7 | 21:44293083 | ACTCTTGTCTACAAG[A/C]ACCTGCCGGCTCCGC | 326 |
rs752200017 | snp | C/T | 0.000222593 | 0.0105474 | intron-variant | AIRE | GRCh38.p7 | 21:44293227 | GGAGCCCAGGACCTA[C/T]GGGGCGGATGAATTC | 326 |
rs752215004 | in-del | -/CC | 1.65949e-05 | 0.00288048 | intron-variant | AIRE | GRCh38.p7 | 21:44290111 | CTGTCTGCCCTTGCT[-/CC]CCCCTCGGGTGGGTC | 326 |
rs752236126 | snp | G/T | 1.67041e-05 | 0.00288994 | missense | AIRE | GRCh38.p7 | 21:44286716 | CTGCAGCCCATCCTG[G/T]ACAGCTTCCCCAAAG | 326 |
rs752303080 | in-del | -/CGTGGA | 2.77743e-05 | 0.00372644 | cds-indel | AIRE | GRCh38.p7 | 21:44286069 | GGAGATCGCGGTGGC[-/CGTGGA]CAGCGCCTTCCCACT | 326 |
rs752306669 | snp | C/G | 1.67385e-05 | 0.00289292 | intron-variant | AIRE | GRCh38.p7 | 21:44296485 | TGCTCCTCCACTCCC[C/G]CTCCCCTGCCTCAGC | 326 |
rs752339804 | snp | C/T | 1.72225e-05 | 0.00293444 | intron-variant | AIRE | GRCh38.p7 | 21:44289808 | CGCTGCCCCCGTAAG[C/T]ACCTGACCTTCCCTG | 326 |
rs752396655 | snp | A/G | 1.73456e-05 | 0.00294491 | intron-variant | AIRE | GRCh38.p7 | 21:44297630 | GGGGCGCACCTGGAG[A/G]TTCTCACCGTCACTC | 326 |
rs752398254 | snp | C/T | 1.66966e-05 | 0.00288929 | missense | AIRE | GRCh38.p7 | 21:44293140 | GACTCCTCGGCCCTG[C/T]ACCCCCTACTGTGTG | 326 |
rs752432041 | snp | A/G | 0.00113593 | 0.023805 | missense | AIRE | GRCh38.p7 | 21:44292373 | GGGCAGAGGAGCCCC[A/G]GCCCCAGGAGCCACC | 326 |
rs752433552 | snp | A/G | 5.21055e-05 | 0.00510392 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286982 | CTGAGCTGCAGATGT[A/G]GACCTCAGCCAGCCC | 326 |
rs752494949 | snp | C/T | 6.23474e-05 | 0.00558299 | intron-variant | AIRE | GRCh38.p7 | 21:44289970 | TGCCCCCATTGCTGA[C/T]GCCCCTCTTCCTTGC | 326 |
rs752502143 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44297194 | AGCTGGAGAAATGAG[A/C]GACGGGCTCACAGCC | 326 |
rs752537921 | snp | A/C/G | 3.41415e-05 | 0.00413156 | missense | AIRE | GRCh38.p7 | 21:44289774 | CGAAGCCTCTGGTTC[A/C/G]AGCCAAGGGAGCCCA | 326 |
rs752687905 | snp | C/T | 0.000302374 | 0.0122921 | missense | AIRE | GRCh38.p7 | 21:44287573 | AGCGCAGAGCAGCAG[C/T]GCCTTCCACTCGGGA | 326 |
rs752732003 | snp | A/T | 1.73634e-05 | 0.00294642 | intron-variant | AIRE | GRCh38.p7 | 21:44292273 | GCTGTCTTGTTCTGC[A/T]TGTCTCTGACTGGTG | 326 |
rs752778776 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44292080 | TTCATCAGAGAGCAC[A/G]CCAAGGGGACCCTGA | 326 |
rs752781086 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44286844 | CCGTGGGTGATGTTC[C/T]AGGACCGTCTTGGAT | 326 |
rs752897977 | snp | C/G | 1.74409e-05 | 0.00295299 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293076 | GGACACGACTCTTGT[C/G]TACAAGCACCTGCCG | 326 |
rs752898603 | snp | C/T | 2.27601e-05 | 0.00337336 | intron-variant | AIRE | GRCh38.p7 | 21:44290105 | GAGGCCCCTGTCTGC[C/T]CTTGCTCCCCTCGGG | 326 |
rs753084849 | snp | C/T | 1.72213e-05 | 0.00293434 | intron-variant | AIRE | GRCh38.p7 | 21:44286549 | ACCCTCATGCCACCC[C/T]ACTGCAGGAGACGCT | 326 |
rs753097871 | snp | A/G | 1.7047e-05 | 0.00291945 | missense | AIRE | GRCh38.p7 | 21:44293017 | GGGCTTAGGTCGGCG[A/G]GAGAGGAGGTAAGAG | 326 |
rs753176150 | snp | A/T | 5.51146e-05 | 0.00524922 | missense | AIRE | GRCh38.p7 | 21:44286113 | CGCTGGCTGACCACG[A/T]CGTGGTCCCCGAGGA | 326 |
rs753200767 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296031 | CTGGTGGTGCTTGTC[A/G]GGGGCGGGGGTGGCA | 326 |
rs753216627 | snp | A/T | 3.41489e-05 | 0.00413198 | missense | AIRE | GRCh38.p7 | 21:44294436 | CCTGCTCAGGAGACG[A/T]GACCCCAGCCCCTGT | 326 |
rs753236604 | snp | C/T | 8.41829e-05 | 0.00648725 | missense | AIRE | GRCh38.p7 | 21:44289663 | TCCTCCCAGGCGGCT[C/T]CAAGAAGTGCATCCA | 326 |
rs753294505 | snp | C/G | 0.000441599 | 0.0148528 | intron-variant | AIRE | GRCh38.p7 | 21:44294518 | GGTCAGTGCCGCAGG[C/G]GCCCTCCATGCATGC | 326 |
rs753337231 | snp | C/T | 1.67223e-05 | 0.00289151 | intron-variant | AIRE | GRCh38.p7 | 21:44296482 | TGGTGCTCCTCCACT[C/T]CCCCTCCCCTGCCTC | 326 |
rs753353875 | snp | C/T | 1.73972e-05 | 0.00294929 | intron-variant | AIRE | GRCh38.p7 | 21:44286966 | GACCCTGCTCCTGCC[C/T]CTGAGCTGCAGATGT | 326 |
rs753355814 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296101 | TCTCAGAGTGGGACT[C/G]CTTGCTGGTTCCCTG | 326 |
rs753460287 | snp | C/T | 0.000419227 | 0.014472 | missense | AIRE | GRCh38.p7 | 21:44286590 | GAAAAGGAGGGCTGC[C/T]CCCAGGCCTTCCACG | 326 |
rs753525560 | snp | G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44291879 | ATAAGGGGCACAGTG[G/T]GGGTCATTGCTCGGC | 326 |
rs753558091 | snp | C/G | 1.70461e-05 | 0.00291938 | missense | AIRE | GRCh38.p7 | 21:44289770 | GGCCCGAAGCCTCTG[C/G]TTCGAGCCAAGGGAG | 326 |
rs753614288 | in-del | -/C | 3.39922e-05 | 0.00412249 | intron-variant | AIRE | GRCh38.p7 | 21:44289636 | GCGGGTGAGCCAGGA[-/C]CAGCCGGCATCTCCT | 326 |
rs753679257 | snp | A/T | 1.80487e-05 | 0.00300401 | intron-variant | AIRE | GRCh38.p7 | 21:44291224 | AGGTGAGCCTGCACC[A/T]CTGCCAGCGCAACCA | 326 |
rs753878067 | snp | A/G | 1.71669e-05 | 0.00292971 | missense | AIRE | GRCh38.p7 | 21:44293844 | GTACGGACGTGCTGC[A/G]GTGTACTCACTGCGC | 326 |
rs753884286 | snp | C/G | 2.17219e-05 | 0.00329552 | intron-variant | AIRE | GRCh38.p7 | 21:44290099 | ACAGGAGAGGCCCCT[C/G]TCTGCCCTTGCTCCC | 326 |
rs753974982 | snp | C/T | 1.80801e-05 | 0.00300661 | intron-variant | AIRE | GRCh38.p7 | 21:44287166 | GAAGCCAGCCAGGGT[C/T]TCCAGTCTTCCCGGG | 326 |
rs754079780 | snp | A/G | 1.97291e-05 | 0.00314073 | missense | AIRE | GRCh38.p7 | 21:44290021 | CTGGGCCAGCAGGGC[A/G]GCGTTCCCGCCCCTC | 326 |
rs754211503 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44287248 | GTGGGGCCAGCCTGC[C/T]TGGGGCTGTGGGGGT | 326 |
rs754217318 | snp | C/T | 5.72426e-05 | 0.00534958 | missense | AIRE | GRCh38.p7 | 21:44294427 | GCTGCAGATCCTGCT[C/T]AGGAGACGTGACCCC | 326 |
rs754240163 | snp | A/G | 3.31466e-05 | 0.0040709 | intron-variant | AIRE | GRCh38.p7 | 21:44291012 | AGAGATGCTGCTGGG[A/G]GAGCTGTTTTGGGAA | 326 |
rs754316070 | snp | C/T | 5.49058e-05 | 0.00523927 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286096 | CTTCCCACTGCTGCA[C/T]GCGCTGGCTGACCAC | 326 |
rs754331960 | snp | A/G | 0.000116458 | 0.0076299 | synonymous-codon | AIRE | GRCh38.p7 | 21:44288406 | CTCCGGGGACGTCCC[A/G]GGAGCCCGAGGGGCC | 326 |
rs754391375 | snp | C/T | 1.86416e-05 | 0.00305294 | missense | AIRE | GRCh38.p7 | 21:44293090 | TCTACAAGCACCTGC[C/T]GGCTCCGCCTTCTGC | 326 |
rs754431144 | snp | C/G/T | 0.000133838 | 0.00817941 | intron-variant | AIRE | GRCh38.p7 | 21:44296484 | GTGCTCCTCCACTCC[C/G/T]CCTCCCCTGCCTCAG | 326 |
rs754606990 | snp | C/T | 1.67649e-05 | 0.0028952 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286592 | AAAGGAGGGCTGCCC[C/T]CAGGCCTTCCACGCC | 326 |
rs754624261 | snp | C/T | 1.66788e-05 | 0.00288775 | stop-gained | AIRE | GRCh38.p7 | 21:44286704 | CGCTATGGCCGGCTG[C/T]AGCCCATCCTGGACA | 326 |
rs754625743 | snp | A/C/G | 3.33418e-05 | 0.00408289 | missense | AIRE | GRCh38.p7 | 21:44296407 | GCCAGTCACGAGCCC[A/C/G]CTCTGCACAGGGATG | 326 |
rs754789130 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44288802 | ACCCTCCAGGGTATC[A/G]GCATTCTTCAACCAG | 326 |
rs754932526 | snp | A/G | 1.67097e-05 | 0.00289043 | missense | AIRE | GRCh38.p7 | 21:44291131 | GTGTGTCGGGACGGC[A/G]GGGAGCTCATCTGCT | 326 |
rs754936533 | snp | C/G | 3.44537e-05 | 0.00415038 | missense | AIRE | GRCh38.p7 | 21:44293850 | ACGTGCTGCGGTGTA[C/G]TCACTGCGCCGCTGC | 326 |
rs755000354 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44293300 | GGGAGGCACAGGGCC[C/T]GGGGCTGTGGGGGGA | 326 |
rs755022448 | snp | C/T | 1.80794e-05 | 0.00300656 | intron-variant | AIRE | GRCh38.p7 | 21:44291225 | GGTGAGCCTGCACCT[C/T]TGCCAGCGCAACCAG | 326 |
rs755023009 | snp | C/G | 3.42425e-05 | 0.00413764 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297753 | CCGGGACATGCAGCT[C/G]TGATGAGAGAGTGCT | 326 |
rs755062200 | snp | C/G | 0.000634788 | 0.0178042 | intron-variant | AIRE | GRCh38.p7 | 21:44287168 | AGCCAGCCAGGGTCT[C/G]CAGTCTTCCCGGGCT | 326 |
rs755231807 | in-del | -/CG | 1.6904e-05 | 0.00290719 | intron-variant | AIRE | GRCh38.p7 | 21:44297651 | ACCGTCACTCTGTCC[-/CG]CAGCACACCTTCGAT | 326 |
rs755258600 | snp | A/G | 3.53782e-05 | 0.00420569 | missense | AIRE | GRCh38.p7 | 21:44287094 | GAGGCTCGAGCTGCC[A/G]CGCCAGCAGCCCTGA | 326 |
rs755314503 | snp | A/G | 8.25821e-05 | 0.00642528 | missense | AIRE | GRCh38.p7 | 21:44286103 | CTGCTGCACGCGCTG[A/G]CTGACCACGACGTGG | 326 |
rs755453000 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44294817 | TGGGGTGAAGGGAGA[A/G]CGGGAGCGCCCGGCC | 326 |
rs755490967 | snp | C/T | 1.6641e-05 | 0.00288448 | stop-gained | AIRE | GRCh38.p7 | 21:44288413 | GACGTCCCGGGAGCC[C/T]GAGGGGCCGTGGAGG | 326 |
rs755506328 | snp | C/G | 3.61409e-05 | 0.00425078 | intron-variant | AIRE | GRCh38.p7 | 21:44294368 | CACTCCTGCTCCCCC[C/G]CAGGGCTGGCAGCCC | 326 |
rs755598841 | snp | A/C | 1.70127e-05 | 0.00291652 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293037 | GGAGGTAAGAGGTCC[A/C]CCTGGGGAACCCCTA | 326 |
rs755613942 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296037 | GTGCTTGTCGGGGGC[A/G]GGGGTGGCATGGACC | 326 |
rs755662741 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44295411 | CCCTTGGGGCTTTTG[C/T]GGAACAGTGGCGTGG | 326 |
rs755765711 | snp | A/C | 1.70435e-05 | 0.00291915 | intron-variant | AIRE | GRCh38.p7 | 21:44289613 | ACTGCCAAGGCAGGT[A/C]CTGCTGGGCGGGTGA | 326 |
rs755828567 | snp | A/G | 0.000161878 | 0.00899515 | intron-variant | AIRE | GRCh38.p7 | 21:44286161 | CCCCGCCCGCCCCCC[A/G]CTGCCCCCAGGCCCT | 326 |
rs756111616 | snp | C/T | 3.5108e-05 | 0.0041896 | intron-variant | AIRE | GRCh38.p7 | 21:44293761 | TCCCCCGGCCCCCCG[C/T]GTCACCCCGCGCTGT | 326 |
rs756188438 | snp | C/G | 0.000120262 | 0.00775349 | synonymous-codon | AIRE | GRCh38.p7 | 21:44290008 | AGGTGAGGCTAGGCT[C/G]GGCCAGCAGGGCAGC | 326 |
rs756290641 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44292099 | AGGGGACCCTGATCA[C/T]GCTGGCCAGGGCCAC | 326 |
rs756307823 | snp | A/G | 1.68587e-05 | 0.00290329 | missense | AIRE | GRCh38.p7 | 21:44297659 | TCTGTCCCGCAGCAC[A/G]CCTTCGATGGCATCC | 326 |
rs756388891 | snp | C/T | 1.75197e-05 | 0.00295966 | intron-variant | AIRE | GRCh38.p7 | 21:44292967 | AGGCGCCCGCTGCCC[C/T]TCTGATGCTGACCCT | 326 |
rs756430893 | snp | A/G | 1.67122e-05 | 0.00289064 | intron-variant | AIRE | GRCh38.p7 | 21:44293921 | CCCGGGTGAGTGAGC[A/G]TGGTCGGCGGGGAGG | 326 |
rs756443807 | in-del | -/C | 1.66942e-05 | 0.00288909 | intron-variant | AIRE | GRCh38.p7 | 21:44296452 | CTGAGCGAGGTAACG[-/C]CTCCCCTGGCCTCCT | 326 |
rs756580223 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285477 | CCGATCCAGCCTCCA[C/T]GGAGGCTCTTGCCGG | 326 |
rs756702867 | in-del | -/A | | | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298148 | AAAACAAAACAAAAC[-/A]AAAAAAACCACATAA | 326 |
rs756768608 | snp | C/G | 1.73378e-05 | 0.00294425 | intron-variant | AIRE | GRCh38.p7 | 21:44288499 | GCTGATGGGGAGACC[C/G]AGGCTCCAAGATGGA | 326 |
rs756873062 | snp | A/G | 1.65814e-05 | 0.00287931 | intron-variant | AIRE | GRCh38.p7 | 21:44291043 | GGAGGTGGCTCTCAG[A/G]AGGGTGCTGCACCCC | 326 |
rs756933733 | snp | G/T | 1.67536e-05 | 0.00289423 | missense | AIRE | GRCh38.p7 | 21:44293153 | TGCACCCCCTACTGT[G/T]TGTGGGTCCTGAGGG | 326 |
rs757010218 | snp | C/T | 1.69565e-05 | 0.00291169 | intron-variant | AIRE | GRCh38.p7 | 21:44297645 | GTTCTCACCGTCACT[C/T]TGTCCCGCAGCACAC | 326 |
rs757096478 | snp | A/C | 1.76449e-05 | 0.00297021 | intron-variant | AIRE | GRCh38.p7 | 21:44293754 | CTACATTTCCCCCGG[A/C]CCCCCGCGTCACCCC | 326 |
rs757121893 | snp | C/T | 1.75925e-05 | 0.00296579 | intron-variant | AIRE | GRCh38.p7 | 21:44289843 | GCCTGGCTCTTGATG[C/T]CCCCCGCCCCAGGAA | 326 |
rs757122996 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44291882 | AGGGGCACAGTGGGG[A/G]TCATTGCTCGGCTCC | 326 |
rs757127578 | snp | C/T | 1.67508e-05 | 0.00289398 | intron-variant | AIRE | GRCh38.p7 | 21:44296490 | CTCCACTCCCCCTCC[C/T]CTGCCTCAGCCGGCA | 326 |
rs757332603 | snp | A/G | 0.000104029 | 0.00721137 | missense | AIRE | GRCh38.p7 | 21:44287004 | AGCCAGCCCCGGAAG[A/G]GGAGGAAGCCCCCGG | 326 |
rs757336333 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44297595 | CTTGTAACGATGGCC[A/G]TGATTCTGTGGCTGC | 326 |
rs757362732 | snp | C/T | 4.13061e-05 | 0.00454437 | missense | AIRE | GRCh38.p7 | 21:44292397 | AGCCACCCGTGGAGA[C/T]CCCGGTATGGCCACG | 326 |
rs757393003 | snp | A/G | 3.42618e-05 | 0.00413881 | missense | AIRE | GRCh38.p7 | 21:44289791 | GCCAAGGGAGCCCAG[A/G]GCGCTGCCCCCGTAA | 326 |
rs757438058 | snp | G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44294613 | GGTGCCAGCTTCGAG[G/T]GCTTGCACCAGACGC | 326 |
rs757463079 | snp | A/T | 1.80143e-05 | 0.00300114 | intron-variant | AIRE | GRCh38.p7 | 21:44293916 | CCCGGCCCGGGTGAG[A/T]GAGCGTGGTCGGCGG | 326 |
rs757747185 | snp | A/C | 0.0012251 | 0.0247194 | missense | AIRE | GRCh38.p7 | 21:44293084 | CTCTTGTCTACAAGC[A/C]CCTGCCGGCTCCGCC | 326 |
rs757750925 | snp | A/C | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285081 | TCCAGGCCACAGCAT[A/C]CCTCAGCCTCTGTCA | 326 |
rs757763493 | in-del | -/C | 0.000367579 | 0.0135519 | intron-variant | AIRE | GRCh38.p7 | 21:44294363 | GGTGGCACTCCTGCT[-/C]CCCCCCAGGGCTGGC | 326 |
rs757773290 | in-del | -/G | 1.6654e-05 | 0.00288561 | intron-variant | AIRE | GRCh38.p7 | 21:44290889 | AATAGGGATGGCCCC[-/G]GGGGGGTGTCTGTTG | 326 |
rs757809666 | snp | A/G | 5.31491e-05 | 0.00515478 | intron-variant | AIRE | GRCh38.p7 | 21:44290120 | CCTTGCTCCCCTCGG[A/G]TGGGTCCTGCTGCCT | 326 |
rs757845742 | snp | A/G | 1.76353e-05 | 0.0029694 | intron-variant | AIRE | GRCh38.p7 | 21:44293743 | TTCGGGTTCAGCTAC[A/G]TTTCCCCCGGCCCCC | 326 |
rs757848836 | snp | C/G | 1.66549e-05 | 0.00288568 | intron-variant | AIRE | GRCh38.p7 | 21:44288336 | CCCAATGGGTGTTCC[C/G]TTTCCCAGGGATTCA | 326 |
rs757901345 | snp | A/G | 5.03368e-05 | 0.00501656 | intron-variant | AIRE | GRCh38.p7 | 21:44290823 | TGTGGTTGGTGTACA[A/G]TTCCGGGGCCCCTGG | 326 |
rs757935716 | snp | A/G | 1.6574e-05 | 0.00287867 | intron-variant | AIRE | GRCh38.p7 | 21:44291015 | GATGCTGCTGGGGGA[A/G]CTGTTTTGGGAAGGA | 326 |
rs757987385 | in-del | -/AGGGTT | 3.43725e-05 | 0.00414549 | intron-variant | AIRE | GRCh38.p7 | 21:44290790 | CCTGGCCCCACTGCC[-/AGGGTT]CTGTGAGGAAGGGTT | 326 |
rs758025342 | snp | G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44288053 | CAGGGCCCATGTCAT[G/T]GGGGGGTGGGTCTGG | 326 |
rs758061620 | snp | A/T | 1.66729e-05 | 0.00288724 | missense | AIRE | GRCh38.p7 | 21:44296426 | TGCACAGGGATGACC[A/T]GGAGTCCCTTCTGAG | 326 |
rs758076375 | snp | A/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44297508 | GGGTCCTCCCCAGAC[A/T]GGCCTGTGCCATGGG | 326 |
rs758103414 | snp | C/G | 1.65872e-05 | 0.00287981 | intron-variant | AIRE | GRCh38.p7 | 21:44290922 | GACCAGATGGATGGG[C/G]AACAGGTGGTCAGGG | 326 |
rs758173293 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44294738 | AGGGTTGGTGGCTGA[C/T]GTCACGGTTGGCTGT | 326 |
rs758237665 | snp | A/C | 1.67379e-05 | 0.00289287 | intron-variant | AIRE | GRCh38.p7 | 21:44296486 | GCTCCTCCACTCCCC[A/C]TCCCCTGCCTCAGCC | 326 |
rs758273455 | snp | C/G | 1.73854e-05 | 0.00294829 | intron-variant | AIRE | GRCh38.p7 | 21:44289829 | ACCTTCCCTGGGGAG[C/G]CTGGCTCTTGATGCC | 326 |
rs758446796 | snp | A/G/T | 6.93173e-05 | 0.00588681 | missense | AIRE | GRCh38.p7 | 21:44293858 | CGGTGTACTCACTGC[A/G/T]CCGCTGCCTTCCACT | 326 |
rs758527824 | snp | A/C/T | 3.7018e-05 | 0.00430208 | intron-variant | AIRE | GRCh38.p7 | 21:44287173 | GCCAGGGTCTCCAGT[A/C/T]TTCCCGGGCTTCCCC | 326 |
rs758528374 | snp | A/G | 1.88004e-05 | 0.00306591 | intron-variant | AIRE | GRCh38.p7 | 21:44291240 | CTGCCAGCGCAACCA[A/G]GCCACCCCGGTTCAC | 326 |
rs758627262 | snp | A/G | 1.68176e-05 | 0.00289974 | intron-variant | AIRE | GRCh38.p7 | 21:44290815 | AGGGTTCATGTGGTT[A/G]GTGTACAGTTCCGGG | 326 |
rs758775963 | snp | A/G | 1.69971e-05 | 0.00291518 | missense | AIRE | GRCh38.p7 | 21:44293029 | GCGGGAGAGGAGGTA[A/G]GAGGTCCACCTGGGG | 326 |
rs758813866 | snp | A/G | 3.43265e-05 | 0.00414271 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297758 | ACATGCAGCTCTGAT[A/G]AGAGAGTGCTGAGAA | 326 |
rs758820737 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44295197 | GGGTGATGACACGTC[C/T]CACCTGCTCCACTGG | 326 |
rs758870962 | snp | C/T | 0.000459688 | 0.0151536 | missense | AIRE | GRCh38.p7 | 21:44286561 | CCCCACTGCAGGAGA[C/T]GCTTCATCTGAAGGA | 326 |
rs758891043 | snp | C/T | 0.000151069 | 0.00868974 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286114 | GCTGGCTGACCACGA[C/T]GTGGTCCCCGAGGAC | 326 |
rs758925577 | in-del | -/CA | 3.47566e-05 | 0.00416858 | intron-variant | AIRE | GRCh38.p7 | 21:44286543 | CAGGGACCCTCATGC[-/CA]CACCCCACTGCAGGA | 326 |
rs758968860 | snp | C/G | 1.72713e-05 | 0.0029386 | intron-variant | AIRE | GRCh38.p7 | 21:44292989 | GCTGACCCTTGGGTT[C/G]CAGCTCCCCCCGGGG | 326 |
rs759077894 | snp | A/G | 1.76821e-05 | 0.00297333 | intron-variant | AIRE | GRCh38.p7 | 21:44297622 | CTGCGGCGGGGGCGC[A/G]CCTGGAGGTTCTCAC | 326 |
rs759203576 | in-del | -/GCA | 1.68633e-05 | 0.00290368 | cds-indel | AIRE | GRCh38.p7 | 21:44289744 | GGAAGAACAAGGCCC[-/GCA]GCAGCAGTGGCCCGA | 326 |
rs759281545 | in-del | -/TG | 5.37418e-05 | 0.00518344 | frameshift-variant | AIRE | GRCh38.p7 | 21:44293150 | CCCTGCACCCCCTAC[-/TG]TGTGTGGGTCCTGAG | 326 |
rs759306955 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285054 | CTTCCCAGATGCCCC[C/T]GGAAGCTCCTGTCCA | 326 |
rs759359897 | snp | G/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284075 | CTGTAAATACAGAAC[G/T]GCAGGGGAGAGGGCA | 326 |
rs759463205 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295064 | CCTGGAGCTGGGTGT[C/G]GGGGAGGCCCGAGTC | 326 |
rs759510873 | snp | A/C | 1.66863e-05 | 0.0028884 | intron-variant | AIRE | GRCh38.p7 | 21:44288308 | CTTGGGAACAGTCTT[A/C]CCCACGGGTGACCCC | 326 |
rs759575621 | snp | A/C/G | 5.33569e-05 | 0.00516489 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293902 | CCCAGCCGGCACCTC[A/C/G]CGGCCCGGGTGAGTG | 326 |
rs759665283 | snp | A/G | 2.59622e-05 | 0.00360284 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293106 | GGCTCCGCCTTCTGC[A/G]GCCCCGCTGCCAGGG | 326 |
rs759776266 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44287198 | TTCCCCGGGAGCCCA[C/T]GCCCCCTCCCCACCC | 326 |
rs759930624 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296827 | GTGGGGCGTGGGAGT[C/G]GGGGGGGGGTCCCAG | 326 |
rs760012106 | snp | C/G | 1.70889e-05 | 0.00292304 | missense | AIRE | GRCh38.p7 | 21:44293825 | TGCGGGGTGTGCGGA[C/G]ATGGTACGGACGTGC | 326 |
rs760027964 | snp | A/G | 0.000849877 | 0.0205965 | intron-variant | AIRE | GRCh38.p7 | 21:44288473 | GGTAGACGCTGTGGC[A/G]GGGAGATGGGGCTGA | 326 |
rs760103978 | snp | A/C | 3.44483e-05 | 0.00415006 | stop-gained | AIRE | GRCh38.p7 | 21:44291181 | CTTCCACCTGGCCTG[A/C]CTGTCCCCTCCGCTC | 326 |
rs760115494 | snp | A/G | 8.23554e-05 | 0.00641646 | synonymous-codon | AIRE | GRCh38.p7 | 21:44292359 | GGAGGTGCAGCCCCG[A/G]GCAGAGGAGCCCCGG | 326 |
rs760280615 | snp | C/T | 8.78677e-05 | 0.00662768 | splice-donor-variant | AIRE | GRCh38.p7 | 21:44292403 | CCGTGGAGACCCCGG[C/T]ATGGCCACGCCCCCT | 326 |
rs760333728 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44291824 | AGCCCCTGAGTGGCC[A/G]TCATCAGGCCCCCTC | 326 |
rs760555624 | snp | A/C | 1.97533e-05 | 0.00314265 | intron-variant | AIRE | GRCh38.p7 | 21:44290076 | TCCACCAGGTAATGC[A/C]CTAGACCACAGGAGA | 326 |
rs760557732 | snp | A/G | 1.71384e-05 | 0.00292727 | missense | AIRE | GRCh38.p7 | 21:44293068 | GCCGGCATGGACACG[A/G]CTCTTGTCTACAAGC | 326 |
rs760600937 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285191 | TCTAAAGCACCTGGA[A/G]GAAGGAAGGAGGGGG | 326 |
rs760661721 | in-del | -/T | 1.66324e-05 | 0.00288374 | frameshift-variant | AIRE | GRCh38.p7 | 21:44288367 | ACCATGTCAGCTTCA[-/T]GTCCAGAGAGCTGTG | 326 |
rs760828231 | snp | A/G | 3.53145e-05 | 0.0042019 | intron-variant | AIRE | GRCh38.p7 | 21:44286527 | GGTGTGGGGGACCAT[A/G]GCAGGGACCCTCATG | 326 |
rs760848364 | snp | C/G | 1.6886e-05 | 0.00290564 | intron-variant | AIRE | GRCh38.p7 | 21:44289647 | AGGACCAGCCGGCAT[C/G]TCCTCCCAGGCGGCT | 326 |
rs760924817 | snp | C/T | 0.000117288 | 0.00765705 | synonymous-codon | AIRE | GRCh38.p7 | 21:44294422 | CCTGCGCTGCAGATC[C/T]TGCTCAGGAGACGTG | 326 |
rs761025044 | snp | C/G | 2.70684e-05 | 0.00367878 | missense | AIRE | GRCh38.p7 | 21:44286079 | GTGGCCGTGGACAGC[C/G]CCTTCCCACTGCTGC | 326 |
rs761056158 | snp | C/G | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298290 | CCCATGAAACACTCA[C/G]TCCCCATTCCCCTCC | 326 |
rs761065692 | snp | C/T | 0.000141313 | 0.00840455 | intron-variant | AIRE | GRCh38.p7 | 21:44293205 | GGGGTCAGGGTGGGC[C/T]CTTCAAGGAGCCCAG | 326 |
rs761114243 | snp | A/G | 1.66062e-05 | 0.00288146 | intron-variant | AIRE | GRCh38.p7 | 21:44291084 | GCATGGGCGTCTCTT[A/G]CCTGTGCCAGAAGAA | 326 |
rs761118621 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44296169 | AGGCTGTCTGGGGGC[C/T]GTGGGCAGCTGGCCG | 326 |
rs761311740 | snp | A/G | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298378 | TGGAAGTGGAATCAC[A/G]CAGTATCTGTCCTTT | 326 |
rs761329134 | snp | C/G | 5.36274e-05 | 0.00517792 | intron-variant | AIRE | GRCh38.p7 | 21:44287149 | GTACCCTCCCTGCAG[C/G]GGAAGCCAGCCAGGG | 326 |
rs761394248 | snp | C/T | 3.51605e-05 | 0.00419273 | synonymous-codon | AIRE | GRCh38.p7 | 21:44291208 | GCTCCGGGAGATCCC[C/T]AGGTGAGCCTGCACC | 326 |
rs761507001 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44292494 | CTCCTGTCCGTCTGT[A/C]CCCTGGAGTCCTGTG | 326 |
rs761523201 | snp | C/T | 1.91294e-05 | 0.00309263 | missense | AIRE | GRCh38.p7 | 21:44290055 | CCCTCCCCAGTGACC[C/T]CCAGCTCCACCAGGT | 326 |
rs761531595 | snp | A/G | 1.69781e-05 | 0.00291355 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297736 | CTCCTGACCCCAGAT[A/G]GCCGGGACATGCAGC | 326 |
rs761712386 | snp | C/T | 0.000123744 | 0.0078649 | intron-variant | AIRE | GRCh38.p7 | 21:44292959 | TGCCGGGCAGGCGCC[C/T]GCTGCCCCTCTGATG | 326 |
rs761718813 | snp | A/C/T | 0.000178384 | 0.00944279 | missense, synonymous-codon | AIRE | GRCh38.p7 | 21:44294473 | GGTGCTGGCCCCCAG[A/C/T]CCCGCCCGCCTGGCC | 326 |
rs761739665 | snp | A/G | 0.000165604 | 0.00909805 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286063 | CCGCACGGAGATCGC[A/G]GTGGCCGTGGACAGC | 326 |
rs761874300 | snp | C/T | 2.00821e-05 | 0.0031687 | missense | AIRE | GRCh38.p7 | 21:44290001 | AGGGTGGAGGTGAGG[C/T]TAGGCTGGGCCAGCA | 326 |
rs762075832 | snp | C/G | 1.65732e-05 | 0.00287859 | intron-variant | AIRE | GRCh38.p7 | 21:44290990 | AGACTGGGGAGTTCA[C/G]GTACCCAGAGATGCT | 326 |
rs762165526 | snp | A/T | 6.64e-05 | 0.00576156 | intron-variant | AIRE | GRCh38.p7 | 21:44291078 | CAGTCTGCATGGGCG[A/T]CTCTTGCCTGTGCCA | 326 |
rs762185030 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44289461 | ACGTGAACTTCGGGG[A/G]ACGCTGTTGAACACC | 326 |
rs762238342 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44288640 | GCACTGAAGTCTCCC[C/T]GTCGGGGGACCTTCT | 326 |
rs762245968 | snp | G/T | 0.000119624 | 0.00773291 | intron-variant | AIRE | GRCh38.p7 | 21:44293193 | GAGCGGGGAGTGGGG[G/T]TCAGGGTGGGCTCTT | 326 |
rs762267080 | snp | C/G | 1.66535e-05 | 0.00288556 | missense | AIRE | GRCh38.p7 | 21:44286690 | ACTACAACCTGGAGC[C/G]CTATGGCCGGCTGCA | 326 |
rs762268160 | snp | C/T | 1.66449e-05 | 0.00288482 | intron-variant | AIRE | GRCh38.p7 | 21:44290887 | CCCAATAGGGATGGC[C/T]CCGGGGGGTGTCTGT | 326 |
rs762289753 | snp | A/G | 3.54566e-05 | 0.00421035 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293124 | CCCGCTGCCAGGGCT[A/G]GACTCCTCGGCCCTG | 326 |
rs762352804 | snp | A/C | 3.48541e-05 | 0.00417443 | intron-variant | AIRE | GRCh38.p7 | 21:44286939 | TACCCCTGGAGAAAA[A/C]CCTGAGGTTGGGACC | 326 |
rs762444350 | snp | A/G | 8.83275e-05 | 0.00664499 | intron-variant | AIRE | GRCh38.p7 | 21:44297616 | CTGTGGCTGCGGCGG[A/G]GGCGCACCTGGAGGT | 326 |
rs762479549 | snp | C/T | 1.72042e-05 | 0.00293288 | intron-variant | AIRE | GRCh38.p7 | 21:44293786 | CGCTGTTGCCTCCCA[C/T]AGAACCTGGCTCCTG | 326 |
rs762506718 | snp | G/T | 0.000140353 | 0.00837598 | intron-variant | AIRE | GRCh38.p7 | 21:44297631 | GGGCGCACCTGGAGG[G/T]TCTCACCGTCACTCT | 326 |
rs762649659 | snp | C/T | 2.04184e-05 | 0.00319512 | intron-variant | AIRE | GRCh38.p7 | 21:44289978 | TTGCTGACGCCCCTC[C/T]TCCTTGCAGGGTGGA | 326 |
rs762663411 | snp | C/T | 1.7741e-05 | 0.00297829 | intron-variant | AIRE | GRCh38.p7 | 21:44292951 | CTGGGTGGTGCCGGG[C/T]AGGCGCCCGCTGCCC | 326 |
rs762724491 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44283854 | TGTGCGCTGGTTCCC[C/T]GGCACCCCAGGGGCT | 326 |
rs762735482 | snp | C/T | 1.73141e-05 | 0.00294223 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287057 | GCCACCCAGACTCCC[C/T]ACCAAGAGGAAGGCC | 326 |
rs762753888 | in-del | -/G | 1.76824e-05 | 0.00297336 | intron-variant | AIRE | GRCh38.p7 | 21:44293752 | AGCTACATTTCCCCC[-/G]GCCCCCCGCGTCACC | 326 |
rs762910691 | snp | G/T | 1.66247e-05 | 0.00288307 | missense | AIRE | GRCh38.p7 | 21:44288392 | GCTGTGGCCATGTCC[G/T]CCGGGGACGTCCCGG | 326 |
rs762914949 | snp | A/G | 1.89744e-05 | 0.00308007 | intron-variant | AIRE | GRCh38.p7 | 21:44293946 | GGGAGGCCTGAACCC[A/G]CACCCACACCCTACA | 326 |
rs763047196 | in-del | -/AC | 1.66732e-05 | 0.00288727 | intron-variant | AIRE | GRCh38.p7 | 21:44288318 | TCTTCCCCACGGGTG[-/AC]ACCCCAATGGGTGTT | 326 |
rs763094492 | snp | G/T | 1.69671e-05 | 0.00291261 | intron-variant | AIRE | GRCh38.p7 | 21:44286766 | GCCATGCTGGGGGCC[G/T]GGGGCAGCTGCTGTC | 326 |
rs763110689 | snp | A/C | 1.65715e-05 | 0.00287845 | intron-variant | AIRE | GRCh38.p7 | 21:44290967 | CTGGCAGCATGGGAG[A/C]AGGGCAGAGACTGGG | 326 |
rs763146169 | snp | C/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285276 | CGAGGCTCAGAGAAG[C/G]AAAGGACTTGCCTGG | 326 |
rs763154847 | snp | A/G | 1.66477e-05 | 0.00288506 | intron-variant | AIRE | GRCh38.p7 | 21:44290882 | TTCTTCCCAATAGGG[A/G]TGGCCCCGGGGGGTG | 326 |
rs763156704 | snp | G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44296579 | ACTCAGGCTGTCCCT[G/T]CTCCACCCACCAGGA | 326 |
rs763305766 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44290189 | CTGAGCCCCTACCCA[A/C]AGGGTACAGCTCTTT | 326 |
rs763315098 | snp | C/T | 4.11675e-05 | 0.00453675 | intron-variant | AIRE | GRCh38.p7 | 21:44291255 | GGCCACCCCGGTTCA[C/T]GGCCGCCTCCACCCA | 326 |
rs763440543 | snp | A/G | 1.74442e-05 | 0.00295327 | missense | AIRE | GRCh38.p7 | 21:44293078 | ACACGACTCTTGTCT[A/G]CAAGCACCTGCCGGC | 326 |
rs763487370 | snp | A/G | 0.000371014 | 0.013615 | missense | AIRE | GRCh38.p7 | 21:44289744 | GGAAGAACAAGGCCC[A/G]CAGCAGCAGTGGCCC | 326 |
rs763544499 | snp | G/T | 3.429e-05 | 0.00414051 | missense | AIRE | GRCh38.p7 | 21:44293795 | CTCCCACAGAACCTG[G/T]CTCCTGGTGCGCGTT | 326 |
rs763636007 | snp | A/G | 1.66366e-05 | 0.0028841 | missense | AIRE | GRCh38.p7 | 21:44291107 | CAGAAGAATGAGGAC[A/G]AGTGTGCCGTGTGTC | 326 |
rs763642554 | snp | A/C | 1.78426e-05 | 0.00298681 | intron-variant | AIRE | GRCh38.p7 | 21:44287137 | CCGCCAGCCCAGGTA[A/C]CCTCCCTGCAGGGGA | 326 |
rs763695515 | in-del | -/A | 1.71133e-05 | 0.00292513 | frameshift-variant | AIRE | GRCh38.p7 | 21:44293805 | CCTGGCTCCTGGTGC[-/A]GCGTTGCGGGGTGTG | 326 |
rs763835269 | snp | A/C | 3.46434e-05 | 0.00416179 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287064 | AGACTCCCCACCAAG[A/C]GGAAGGCCTCAGAAG | 326 |
rs763912496 | snp | C/T | 7.09119e-05 | 0.00595407 | intron-variant | AIRE | GRCh38.p7 | 21:44292955 | GTGGTGCCGGGCAGG[C/T]GCCCGCTGCCCCTCT | 326 |
rs763954225 | snp | G/T | 0.000214523 | 0.0103545 | missense | AIRE | GRCh38.p7 | 21:44292390 | CCCCAGGAGCCACCC[G/T]TGGAGACCCCGGTAT | 326 |
rs764002506 | snp | C/T | 2.02133e-05 | 0.00317903 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289990 | CTCTTCCTTGCAGGG[C/T]GGAGGTGAGGCTAGG | 326 |
rs764029559 | snp | C/T | 5.20693e-05 | 0.00510215 | missense | AIRE | GRCh38.p7 | 21:44286998 | GACCTCAGCCAGCCC[C/T]GGAAGGGGAGGAAGC | 326 |
rs764222833 | snp | C/G | 1.90569e-05 | 0.00308676 | intron-variant | AIRE | GRCh38.p7 | 21:44293949 | AGGCCTGAACCCACA[C/G]CCACACCCTACACCC | 326 |
rs764314545 | snp | C/T | 6.67802e-05 | 0.00577803 | intron-variant | AIRE | GRCh38.p7 | 21:44296457 | CGAGGTAACGCCTCC[C/T]CTGGCCTCCTGGTGC | 326 |
rs764403208 | snp | A/G | 1.66471e-05 | 0.00288501 | intron-variant | AIRE | GRCh38.p7 | 21:44290884 | CTTCCCAATAGGGAT[A/G]GCCCCGGGGGGTGTC | 326 |
rs764501571 | snp | C/G | 1.83306e-05 | 0.00302737 | missense | AIRE | GRCh38.p7 | 21:44293082 | GACTCTTGTCTACAA[C/G]CACCTGCCGGCTCCG | 326 |
rs764588163 | snp | A/T | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298382 | AGTGGAATCACACAG[A/T]ATCTGTCCTTTTGTG | 326 |
rs764588340 | snp | C/G | 1.73776e-05 | 0.00294762 | splice-acceptor-variant | AIRE | GRCh38.p7 | 21:44286977 | TGCCCCTGAGCTGCA[C/G]ATGTGGACCTCAGCC | 326 |
rs764589497 | snp | C/G | 2.92701e-05 | 0.00382547 | missense | AIRE | GRCh38.p7 | 21:44293113 | CCTTCTGCAGCCCCG[C/G]TGCCAGGGCTGGACT | 326 |
rs764595734 | snp | C/G | 1.68103e-05 | 0.00289911 | intron-variant | AIRE | GRCh38.p7 | 21:44290816 | GGGTTCATGTGGTTG[C/G]TGTACAGTTCCGGGG | 326 |
rs764644932 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44287441 | CCCTCCACGCCCTCC[C/T]ACCGCGGGCCCCTGC | 326 |
rs764680256 | snp | A/G | 1.75277e-05 | 0.00296033 | intron-variant | AIRE | GRCh38.p7 | 21:44297626 | GGCGGGGGCGCACCT[A/G]GAGGTTCTCACCGTC | 326 |
rs764768203 | snp | A/G | 0.000161983 | 0.00899806 | intron-variant | AIRE | GRCh38.p7 | 21:44293212 | GGGTGGGCTCTTCAA[A/G]GAGCCCAGGACCTAC | 326 |
rs764771413 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44292557 | CCCCATGCCCAAGCC[A/C]GGTCCTTGTGGTCTC | 326 |
rs764819068 | in-del | -/C | 3.99816e-05 | 0.00447093 | frameshift-variant | AIRE | GRCh38.p7 | 21:44290011 | TGAGGCTAGGCTGGG[-/C]CAGCAGGGCAGCGTT | 326 |
rs764878471 | in-del | -/C | 6.33774e-05 | 0.00562891 | frameshift-variant | AIRE | GRCh38.p7 | 21:44293161 | CTACTGTGTGTGGGT[-/C]CTGAGGGTCAGCAGG | 326 |
rs764971246 | snp | A/G | 1.72071e-05 | 0.00293313 | intron-variant | AIRE | GRCh38.p7 | 21:44289805 | GGGCGCTGCCCCCGT[A/G]AGCACCTGACCTTCC | 326 |
rs765032481 | snp | A/G | 1.87075e-05 | 0.00305833 | intron-variant | AIRE | GRCh38.p7 | 21:44293940 | TCGGCGGGGAGGCCT[A/G]AACCCACACCCACAC | 326 |
rs765039471 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284474 | CCTAGAGTCTTTTCC[A/G]GAGCAATCTCAGACG | 326 |
rs765052383 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44291905 | TCGGCTCCTGAAGCC[A/G]TTCCTCCTTGCCGTC | 326 |
rs765084142 | snp | C/G | 1.75866e-05 | 0.0029653 | intron-variant | AIRE | GRCh38.p7 | 21:44292261 | GATCTGTCACCCGCT[C/G]TCTTGTTCTGCATGT | 326 |
rs765159981 | snp | C/T | 1.66852e-05 | 0.0028883 | intron-variant | AIRE | GRCh38.p7 | 21:44288310 | TGGGAACAGTCTTCC[C/T]CACGGGTGACCCCAA | 326 |
rs765283449 | snp | A/C | 1.66546e-05 | 0.00288566 | intron-variant | AIRE | GRCh38.p7 | 21:44290872 | AAACCGGGTTTTCTT[A/C]CCAATAGGGATGGCC | 326 |
rs765356727 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44290088 | TGCCCTAGACCACAG[A/G]AGAGGCCCCTGTCTG | 326 |
rs765508721 | snp | G/T | 1.72409e-05 | 0.00293601 | missense | AIRE | GRCh38.p7 | 21:44293074 | ATGGACACGACTCTT[G/T]TCTACAAGCACCTGC | 326 |
rs765521950 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44295141 | CCCAGCAGAGGCCTC[C/T]TGAGCACATCCTGGC | 326 |
rs765586915 | snp | A/G | 0.0001365 | 0.00826023 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293016 | GGGGCTTAGGTCGGC[A/G]GGAGAGGAGGTAAGA | 326 |
rs765674084 | snp | A/G | 1.98588e-05 | 0.00315103 | intron-variant | AIRE | GRCh38.p7 | 21:44294517 | AGGTCAGTGCCGCAG[A/G]GGCCCTCCATGCATG | 326 |
rs765710320 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44289511 | ATCCCCGGGCCCCAG[A/G]CTCGACTGGGGTGGG | 326 |
rs765738882 | snp | A/G | 3.41822e-05 | 0.004134 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289760 | CAGCAGCAGTGGCCC[A/G]AAGCCTCTGGTTCGA | 326 |
rs765761567 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44288677 | CCAGCGGTCCAGGCC[C/T]ACATCCCCACCCGGG | 326 |
rs765762080 | snp | G/T | 1.66771e-05 | 0.00288761 | intron-variant | AIRE | GRCh38.p7 | 21:44296369 | GCTGACCTCTTCTCT[G/T]TACTGGGTTCCAGGA | 326 |
rs765762534 | snp | A/G | 6.9056e-05 | 0.00587565 | intron-variant | AIRE | GRCh38.p7 | 21:44288477 | GACGCTGTGGCGGGG[A/G]GATGGGGCTGATGGG | 326 |
rs765862563 | snp | A/C | 5.04003e-05 | 0.00501972 | missense | AIRE | GRCh38.p7 | 21:44289677 | TCCAAGAAGTGCATC[A/C]AGGTTGGCGGGGAGT | 326 |
rs765892829 | snp | A/G | 4.99946e-05 | 0.00499948 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286700 | GGAGCGCTATGGCCG[A/G]CTGCAGCCCATCCTG | 326 |
rs765919102 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296812 | ACTTTCCCAGGGAGG[A/G]TGGGGCGTGGGAGTG | 326 |
rs765983879 | snp | C/G | 3.34331e-05 | 0.00408845 | intron-variant | AIRE | GRCh38.p7 | 21:44296477 | CCTCCTGGTGCTCCT[C/G]CACTCCCCCTCCCCT | 326 |
rs766088517 | snp | C/G | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298482 | TCCTTTTTTAAGGCT[C/G]AGTAATATTCCAGCA | 326 |
rs766103427 | snp | G/T | 0.00020139 | 0.0100327 | missense | AIRE | GRCh38.p7 | 21:44287554 | CCCCAAGAAGCCGGA[G/T]AGCAGCGCAGAGCAG | 326 |
rs766114406 | snp | A/G | 0.000127291 | 0.0079768 | intron-variant | AIRE | GRCh38.p7 | 21:44291260 | CCCCGGTTCACGGCC[A/G]CCTCCACCCACTGAC | 326 |
rs766116169 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44294959 | AGTGACCCCGGGTCC[A/G]GCCAGTAGCTCTTCC | 326 |
rs766189603 | in-del | -/CAGA | 1.66319e-05 | 0.00288369 | frameshift-variant | AIRE | GRCh38.p7 | 21:44288369 | CATGTCAGCTTCAGT[-/CAGA]CCAGAGAGCTGTGGC | 326 |
rs766234328 | snp | C/T | 1.80169e-05 | 0.00300135 | intron-variant | AIRE | GRCh38.p7 | 21:44291223 | CAGGTGAGCCTGCAC[C/T]TCTGCCAGCGCAACC | 326 |
rs766298373 | snp | A/G/T | 3.45162e-05 | 0.00415417 | intron-variant | AIRE | GRCh38.p7 | 21:44290787 | TGGGCCTGGCCCCAC[A/G/T]GCCCTGTGAGGAAGG | 326 |
rs766317830 | snp | A/G | 1.77495e-05 | 0.002979 | missense | AIRE | GRCh38.p7 | 21:44293897 | CACTTCCCAGCCGGC[A/G]CCTCCCGGCCCGGGT | 326 |
rs766320341 | snp | G/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284594 | CCATCCTGGACTCTG[G/T]CTGCCCAAAAGCAAA | 326 |
rs766492913 | snp | C/T | 2.01461e-05 | 0.00317374 | intron-variant | AIRE | GRCh38.p7 | 21:44290082 | AGGTAATGCCCTAGA[C/T]CACAGGAGAGGCCCC | 326 |
rs766520444 | in-del | -/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295064 | CCTGGAGCTGGGTGT[-/G]GGGGAGGCCCGAGTC | 326 |
rs766686427 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285292 | AAAGGACTTGCCTGG[C/T]GTCACACAGCTAGCC | 326 |
rs766724253 | snp | C/G | 1.70368e-05 | 0.00291858 | missense | AIRE | GRCh38.p7 | 21:44294425 | GCGCTGCAGATCCTG[C/G]TCAGGAGACGTGACC | 326 |
rs766731444 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295812 | TTTCCCCTCCAGACC[C/G]GGCAGCCCCTCCCTC | 326 |
rs766896493 | snp | G/T | 1.65732e-05 | 0.00287859 | intron-variant | AIRE | GRCh38.p7 | 21:44291011 | CAGAGATGCTGCTGG[G/T]GGAGCTGTTTTGGGA | 326 |
rs766901260 | snp | A/C | 1.76024e-05 | 0.00296663 | missense | AIRE | GRCh38.p7 | 21:44291209 | CTCCGGGAGATCCCC[A/C]GGTGAGCCTGCACCT | 326 |
rs767059333 | snp | G/T | 1.68162e-05 | 0.00289962 | missense | AIRE | GRCh38.p7 | 21:44289671 | GGCGGCTCCAAGAAG[G/T]GCATCCAGGTTGGCG | 326 |
rs767085354 | snp | A/G | 3.4229e-05 | 0.00413683 | missense | AIRE | GRCh38.p7 | 21:44293835 | GCGGAGATGGTACGG[A/G]CGTGCTGCGGTGTAC | 326 |
rs767206852 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44291686 | TCTGCGTTCACATCC[C/T]GGTGCTCCTTCCCCA | 326 |
rs767259813 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44290692 | TGAAGGCACAGCAGG[C/G]ACCATCCAGGCAGGG | 326 |
rs767272852 | snp | C/T | 7.6646e-05 | 0.00619008 | missense | AIRE | GRCh38.p7 | 21:44290061 | CCAGTGACCCCCAGC[C/T]CCACCAGGTAATGCC | 326 |
rs767340745 | snp | C/T | 1.99922e-05 | 0.0031616 | synonymous-codon | AIRE | GRCh38.p7 | 21:44290002 | GGGTGGAGGTGAGGC[C/T]AGGCTGGGCCAGCAG | 326 |
rs767362769 | snp | A/G | 0.000108399 | 0.00736124 | intron-variant | AIRE | GRCh38.p7 | 21:44287151 | ACCCTCCCTGCAGGG[A/G]AAGCCAGCCAGGGTC | 326 |
rs767365037 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295075 | GTGTGGGGGAGGCCC[A/G]AGTCGCTGCTGCAGG | 326 |
rs767432975 | snp | G/T | 1.71358e-05 | 0.00292704 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293004 | CCAGCTCCCCCCGGG[G/T]CTTAGGTCGGCGGGA | 326 |
rs767627556 | snp | A/G | 1.76655e-05 | 0.00297194 | intron-variant | AIRE | GRCh38.p7 | 21:44292960 | GCCGGGCAGGCGCCC[A/G]CTGCCCCTCTGATGC | 326 |
rs767634582 | in-del | -/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44293399 | CTGCTCCCCCCACAA[-/G]GCAGGACAATGAAGG | 326 |
rs767639114 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44287319 | AGCTCCCTCCTGCCT[A/G]AAGGCTGAGCTCCCC | 326 |
rs767642299 | snp | G/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284734 | AGCCCTAATCCATGC[G/T]GGCCAGGTCATCTCG | 326 |
rs767835622 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296892 | ACTCAGGCCTCTCTA[C/G]GCTAAGATGGGCAGG | 326 |
rs767844747 | snp | A/G | 1.6625e-05 | 0.00288309 | missense | AIRE | GRCh38.p7 | 21:44288399 | CCATGTCCTCCGGGG[A/G]CGTCCCGGGAGCCCG | 326 |
rs767935859 | in-del | -/CTGGCCCCCAGCCCCGCCCGC | 0.000206861 | 0.010168 | cds-indel | AIRE | GRCh38.p7 | 21:44294462 | CCTGTGGAGGGGGTG[-/CTGGCCCCCAGCCCCGCCCGC]CTGGCCCCTGGGCCT | 326 |
rs768033689 | snp | C/T | 3.48317e-05 | 0.00417308 | intron-variant | AIRE | GRCh38.p7 | 21:44286953 | ACCCTGAGGTTGGGA[C/T]CCTGCTCCTGCCCCT | 326 |
rs768039280 | snp | A/C | 1.6671e-05 | 0.00288708 | intron-variant | AIRE | GRCh38.p7 | 21:44288320 | CTTCCCCACGGGTGA[A/C]CCCAATGGGTGTTCC | 326 |
rs768040995 | snp | A/G | 1.65715e-05 | 0.00287845 | intron-variant | AIRE | GRCh38.p7 | 21:44291000 | GTTCAGGTACCCAGA[A/G]ATGCTGCTGGGGGAG | 326 |
rs768045741 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295981 | CCTGGGGACCTTCTC[C/G]CACTCTGGTCGCTCA | 326 |
rs768086611 | snp | C/T | 0.000192053 | 0.00979743 | missense | AIRE | GRCh38.p7 | 21:44293129 | TGCCAGGGCTGGACT[C/T]CTCGGCCCTGCACCC | 326 |
rs768150178 | snp | A/G | 5.34212e-05 | 0.00516795 | intron-variant | AIRE | GRCh38.p7 | 21:44290758 | GCAGGCGCTGAGGTC[A/G]GGAGAGACCTCCCTG | 326 |
rs768160103 | snp | C/T | 1.76095e-05 | 0.00296723 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297777 | GAGTGCTGAGAAGGA[C/T]ACCTCCTTCCTCAGT | 326 |
rs768193377 | snp | C/T | 3.82226e-05 | 0.00437148 | missense | AIRE | GRCh38.p7 | 21:44290046 | CCCCTCTGGCCCTCC[C/T]CAGTGACCCCCAGCT | 326 |
rs768250058 | snp | A/G | 1.71035e-05 | 0.00292429 | missense | AIRE | GRCh38.p7 | 21:44293831 | GTGTGCGGAGATGGT[A/G]CGGACGTGCTGCGGT | 326 |
rs768310786 | snp | C/G | 0.00010986 | 0.00741066 | intron-variant | AIRE | GRCh38.p7 | 21:44287510 | TGCCCCCAGCTCCCC[C/G]ATTCAGGCTCTCAAC | 326 |
rs768340546 | snp | C/T | 1.78844e-05 | 0.0029903 | intron-variant | AIRE | GRCh38.p7 | 21:44286507 | TGGAGATGGGCAGGC[C/T]GCAGGGTGTGGGGGA | 326 |
rs768375542 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44288201 | GTGGGCTGTCTGCAC[A/G]TGGCAGGGCTGGGTC | 326 |
rs768381413 | snp | C/T | 1.71861e-05 | 0.00293134 | missense | AIRE | GRCh38.p7 | 21:44292999 | GGGTTCCAGCTCCCC[C/T]CGGGGCTTAGGTCGG | 326 |
rs768398162 | snp | A/G | 1.73589e-05 | 0.00294604 | missense | AIRE | GRCh38.p7 | 21:44294457 | CAGCCCCTGTGGAGG[A/G]GGTGCTGGCCCCCAG | 326 |
rs768447024 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44291381 | TTTCCCACCCTGCCA[A/C]CTGCCTCCCGGTCTG | 326 |
rs768530596 | snp | C/T | 1.70377e-05 | 0.00291865 | intron-variant | AIRE | GRCh38.p7 | 21:44289622 | GCAGGTCCTGCTGGG[C/T]GGGTGAGCCAGGACC | 326 |
rs768603759 | snp | A/G | 1.67419e-05 | 0.00289321 | missense | AIRE | GRCh38.p7 | 21:44288452 | ATCCAGCAGGTGTTT[A/G]AGTCAGGTAGACGCT | 326 |
rs768696010 | snp | C/G | 5.63714e-05 | 0.00530872 | missense | AIRE | GRCh38.p7 | 21:44286018 | CCCCATGGCGACGGA[C/G]GCGGCGCTACGCCGG | 326 |
rs768705745 | in-del | -/CCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCAC | 0.000146595 | 0.00856015 | intron-variant | AIRE | GRCh38.p7 | 21:44292432 | CTCCTAGCCGGGCCA[lengthTooLong]CCCCTCCTGTCCGTC | 326 |
rs768749723 | snp | A/G | 3.35486e-05 | 0.00409551 | missense | AIRE | GRCh38.p7 | 21:44297668 | CAGCACACCTTCGAT[A/G]GCATCCTGCAGTGGG | 326 |
rs768813968 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44290304 | TCTTAAGAGCATGGC[A/G]TTTGGTCCAGGCTGT | 326 |
rs768840365 | snp | C/T | 1.73312e-05 | 0.00294369 | missense | AIRE | GRCh38.p7 | 21:44287020 | GGAGGAAGCCCCCGG[C/T]CGTCCCCAAGGCTTT | 326 |
rs768876713 | snp | C/T | 1.66004e-05 | 0.00288096 | intron-variant | AIRE | GRCh38.p7 | 21:44291076 | CCCAGTCTGCATGGG[C/T]GTCTCTTGCCTGTGC | 326 |
rs768948581 | snp | C/T | 1.71879e-05 | 0.00293149 | missense | AIRE | GRCh38.p7 | 21:44289801 | CCCAGGGCGCTGCCC[C/T]CGTAAGCACCTGACC | 326 |
rs769038893 | snp | C/T | 4.23935e-05 | 0.0046038 | intron-variant | AIRE | GRCh38.p7 | 21:44289941 | ACAGCCATGTGCACC[C/T]TCGCTGCTGAGGCTG | 326 |
rs769187322 | in-del | -/TC | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285640 | TTCGGAAGTGAGAGT[-/TC]TCTGAGTCCCGCACA | 326 |
rs769305771 | in-del | -/C | | | frameshift-variant | AIRE | GRCh38.p7 | 21:44292307 | ACACGAGCAGTGGGA[-/C]CTGGAGGTGCTCCAG | 326 |
rs769335225 | snp | A/G | 5.05753e-05 | 0.00502843 | synonymous-codon | AIRE | GRCh38.p7 | 21:44297706 | GAGCATGGCCCGTCC[A/G]GCGGCCCCCTTCCCC | 326 |
rs769352891 | snp | A/C | | | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298156 | AACAAAACAAAAAAA[A/C]CACATAACATAAATT | 326 |
rs769360966 | snp | A/C/G | 5.17213e-05 | 0.00508512 | synonymous-codon | AIRE | GRCh38.p7 | 21:44292995 | CCTTGGGTTCCAGCT[A/C/G]CCCCCGGGGCTTAGG | 326 |
rs769415000 | snp | G/T | 3.22565e-05 | 0.00401587 | utr-variant-5-prime | AIRE | GRCh38.p7 | 21:44285998 | GCCCCGGGTCCCCGC[G/T]CCCACCCCATGGCGA | 326 |
rs769454980 | snp | C/T | 1.92025e-05 | 0.00309853 | synonymous-codon | AIRE | GRCh38.p7 | 21:44290032 | GGGCAGCGTTCCCGC[C/T]CCTCTGGCCCTCCCC | 326 |
rs769470638 | snp | C/T | 6.34981e-05 | 0.00563427 | missense | AIRE | GRCh38.p7 | 21:44294451 | TGACCCCAGCCCCTG[C/T]GGAGGGGGTGCTGGC | 326 |
rs769510002 | snp | A/G | 3.33222e-05 | 0.00408167 | synonymous-codon | AIRE | GRCh38.p7 | 21:44288430 | AGGGGCCGTGGAGGG[A/G]ATCCTCATCCAGCAG | 326 |
rs769515721 | snp | G/T | 0.000163894 | 0.00905098 | synonymous-codon | AIRE | GRCh38.p7 | 21:44294401 | CATCCTCTGCTGCAG[G/T]ACGGGCCTGCGCTGC | 326 |
rs769525035 | snp | A/C | 1.66308e-05 | 0.00288359 | missense | AIRE | GRCh38.p7 | 21:44288376 | AGCTTCAGTCCAGAG[A/C]GCTGTGGCCATGTCC | 326 |
rs769719554 | snp | A/C/G | 0.00013882 | 0.00833031 | missense | AIRE | GRCh38.p7 | 21:44293111 | CGCCTTCTGCAGCCC[A/C/G]GCTGCCAGGGCTGGA | 326 |
rs769768095 | snp | A/G | 1.65732e-05 | 0.00287859 | intron-variant | AIRE | GRCh38.p7 | 21:44290962 | AGGCCCTGGCAGCAT[A/G]GGAGCAGGGCAGAGA | 326 |
rs769868098 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44288321 | TTCCCCACGGGTGAC[A/C]CCAATGGGTGTTCCC | 326 |
rs769952847 | in-del | -/C | 4.51702e-05 | 0.00475216 | intron-variant | AIRE | GRCh38.p7 | 21:44287631 | CTCCCTTCTCCCTGG[-/C]CAGGGGCAAGGGGTC | 326 |
rs769965296 | snp | A/G | 1.69321e-05 | 0.0029096 | intron-variant | AIRE | GRCh38.p7 | 21:44286761 | ACTCAGCCATGCTGG[A/G]GGCCTGGGGCAGCTG | 326 |
rs770013170 | in-del | -/GATGGATGGG | 0.000248824 | 0.0111512 | intron-variant | AIRE | GRCh38.p7 | 21:44290912 | GTCTGTTGGAGACCA[-/GATGGATGGG]GAACAGGTGGTCAGG | 326 |
rs770027594 | snp | C/T | 1.66341e-05 | 0.00288388 | missense | AIRE | GRCh38.p7 | 21:44286666 | ACTTCTGGAGGGTGC[C/T]GTTCAAGGACTACAA | 326 |
rs770210387 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44290461 | CAGTGTGGGGGGTGC[C/T]TGCCGTGGTGGGTTA | 326 |
rs770586685 | snp | A/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44283928 | TGAACTTGATGTTAG[A/T]GAGCTCTCCCTTCGT | 326 |
rs770587794 | snp | A/G | 0.000288434 | 0.0120056 | intron-variant | AIRE | GRCh38.p7 | 21:44292426 | CGCCCCCTCCTAGCC[A/G]GGCCACCCCTCCTGT | 326 |
rs770737578 | snp | G/T | 1.65737e-05 | 0.00287864 | intron-variant | AIRE | GRCh38.p7 | 21:44290955 | GAATTTCAGGCCCTG[G/T]CAGCATGGGAGCAGG | 326 |
rs770777635 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44287824 | CCTGGTTCTGGGACC[A/C]CCTTCTCAGGCACCT | 326 |
rs770861421 | in-del | -/CTGTC | 3.50244e-05 | 0.00418461 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297776 | GAGTGCTGAGAAGGA[-/CTGTC]CACCTCCTTCCTCAG | 326 |
rs770877500 | snp | C/T | 3.33589e-05 | 0.00408391 | intron-variant | AIRE | GRCh38.p7 | 21:44296355 | GCTGTGGGAGTTGGG[C/T]TGACCTCTTCTCTTT | 326 |
rs770965247 | snp | A/C | 1.71287e-05 | 0.00292644 | missense | AIRE | GRCh38.p7 | 21:44293069 | CCGGCATGGACACGA[A/C]TCTTGTCTACAAGCA | 326 |
rs771182213 | snp | C/T | 1.68761e-05 | 0.00290478 | intron-variant | AIRE | GRCh38.p7 | 21:44289652 | CAGCCGGCATCTCCT[C/T]CCAGGCGGCTCCAAG | 326 |
rs771244760 | snp | C/T | 3.41699e-05 | 0.00413325 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293821 | GCGTTGCGGGGTGTG[C/T]GGAGATGGTACGGAC | 326 |
rs771314896 | snp | A/G | 3.55322e-05 | 0.00421483 | missense | AIRE | GRCh38.p7 | 21:44287124 | ACTCCAAGGGGCACC[A/G]CCAGCCCAGGTACCC | 326 |
rs771341718 | in-del | -/G | 1.77206e-05 | 0.00297657 | frameshift-variant | AIRE | GRCh38.p7 | 21:44287116 | CAGCCCTGACTCCAA[-/G]GGGCACCGCCAGCCC | 326 |
rs771370188 | snp | C/T | 0.000102981 | 0.00717496 | intron-variant | AIRE | GRCh38.p7 | 21:44292257 | TGGGGATCTGTCACC[C/T]GCTGTCTTGTTCTGC | 326 |
rs771592755 | snp | A/C | 0.000202737 | 0.0100661 | missense | AIRE | GRCh38.p7 | 21:44287541 | TGAAGGCCAAGCCCC[A/C]CAAGAAGCCGGAGAG | 326 |
rs771680046 | snp | C/T | 3.34297e-05 | 0.00408824 | intron-variant | AIRE | GRCh38.p7 | 21:44290841 | CCGGGGCCCCTGGAA[C/T]GCAGCAGCCTGCAAG | 326 |
rs771790456 | snp | A/G | 3.4121e-05 | 0.00413029 | missense | AIRE | GRCh38.p7 | 21:44293065 | CTAGCCGGCATGGAC[A/G]CGACTCTTGTCTACA | 326 |
rs771814069 | snp | C/T | 0.000222643 | 0.0105485 | intron-variant | AIRE | GRCh38.p7 | 21:44287619 | CAGTGGGAGCGCCTC[C/T]CTTCTCCCTGGCCAG | 326 |
rs771925480 | in-del | -/A | 1.66527e-05 | 0.00288549 | intron-variant | AIRE | GRCh38.p7 | 21:44288338 | AATGGGTGTTCCCTT[-/A]TCCCAGGGATTCAGA | 326 |
rs771986891 | snp | C/G | 3.33634e-05 | 0.00408418 | intron-variant | AIRE | GRCh38.p7 | 21:44296338 | TCTGTACCCCCACCA[C/G]GGCTGTGGGAGTTGG | 326 |
rs772018559 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44295628 | CCTCTTTCTTGTCAT[C/T]GTGATGTGAAATGTA | 326 |
rs772104934 | snp | C/T | 1.67747e-05 | 0.00289605 | missense | AIRE | GRCh38.p7 | 21:44289710 | TACACTCCCAGCAAG[C/T]TCGAAGACTCCGGCA | 326 |
rs772110833 | snp | A/G | 1.77436e-05 | 0.0029785 | intron-variant | AIRE | GRCh38.p7 | 21:44286521 | CCGCAGGGTGTGGGG[A/G]ACCATGGCAGGGACC | 326 |
rs772221175 | snp | C/T | 0.00020215 | 0.0100516 | intron-variant | AIRE | GRCh38.p7 | 21:44288464 | TTTGAGTCAGGTAGA[C/T]GCTGTGGCGGGGAGA | 326 |
rs772298343 | snp | A/G | | | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297803 | TCAGTCCTGGAAGCC[A/G]GCCGGCTGGGATCAA | 326 |
rs772333071 | snp | C/T | 1.66018e-05 | 0.00288108 | intron-variant | AIRE | GRCh38.p7 | 21:44291079 | AGTCTGCATGGGCGT[C/T]TCTTGCCTGTGCCAG | 326 |
rs772386639 | snp | G/T | 3.36734e-05 | 0.00410312 | missense | AIRE | GRCh38.p7 | 21:44297697 | GGCCATCCAGAGCAT[G/T]GCCCGTCCGGCGGCC | 326 |
rs772423300 | snp | C/T | 3.85579e-05 | 0.00439061 | synonymous-codon | AIRE | GRCh38.p7 | 21:44290029 | GCAGGGCAGCGTTCC[C/T]GCCCCTCTGGCCCTC | 326 |
rs772426095 | snp | C/T | 2.1149e-05 | 0.00325178 | intron-variant | AIRE | GRCh38.p7 | 21:44289957 | TCGCTGCTGAGGCTG[C/T]CCCCATTGCTGACGC | 326 |
rs772472845 | snp | C/G/T | 0.000354257 | 0.0133044 | intron-variant | AIRE | GRCh38.p7 | 21:44297619 | TGGCTGCGGCGGGGG[C/G/T]GCACCTGGAGGTTCT | 326 |
rs772511282 | snp | A/T | 1.73267e-05 | 0.0029433 | missense | AIRE | GRCh38.p7 | 21:44287023 | GGAAGCCCCCGGCCG[A/T]CCCCAAGGCTTTGGT | 326 |
rs772537062 | snp | C/G | 1.72916e-05 | 0.00294032 | intron-variant | AIRE | GRCh38.p7 | 21:44293778 | TCACCCCGCGCTGTT[C/G]CCTCCCACAGAACCT | 326 |
rs772650680 | snp | C/G | 3.40379e-05 | 0.00412526 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289757 | CCGCAGCAGCAGTGG[C/G]CCGAAGCCTCTGGTT | 326 |
rs772654896 | snp | G/T | 3.55101e-05 | 0.00421352 | intron-variant | AIRE | GRCh38.p7 | 21:44293199 | GGAGTGGGGGTCAGG[G/T]TGGGCTCTTCAAGGA | 326 |
rs772752444 | snp | A/T | 4.71309e-05 | 0.0048542 | intron-variant | AIRE | GRCh38.p7 | 21:44287633 | CCCTTCTCCCTGGCC[A/T]GGGGCAAGGGGTCAG | 326 |
rs772820639 | snp | A/G/T | 5.51307e-05 | 0.00525003 | intron-variant | AIRE | GRCh38.p7 | 21:44293927 | TGAGTGAGCGTGGTC[A/G/T]GCGGGGAGGCCTGAA | 326 |
rs772901510 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44294951 | AGAGGCAAAGTGACC[C/T]CGGGTCCAGCCAGTA | 326 |
rs772966554 | snp | C/T | 6.67256e-05 | 0.00577567 | intron-variant | AIRE | GRCh38.p7 | 21:44296342 | TACCCCCACCAGGGC[C/T]GTGGGAGTTGGGCTG | 326 |
rs773022211 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284497 | CTCAGACGTGCAGAA[C/T]GCTCAGGGGGACCCT | 326 |
rs773057776 | snp | A/G | 3.34331e-05 | 0.00408845 | intron-variant | AIRE | GRCh38.p7 | 21:44290842 | CGGGGCCCCTGGAAC[A/G]CAGCAGCCTGCAAGA | 326 |
rs773078214 | snp | C/T | 1.71053e-05 | 0.00292444 | missense | AIRE | GRCh38.p7 | 21:44293011 | CCCCCGGGGCTTAGG[C/T]CGGCGGGAGAGGAGG | 326 |
rs773143714 | in-del | -/T | 1.66466e-05 | 0.00288496 | frameshift-variant | AIRE | GRCh38.p7 | 21:44288348 | TCCCTTTCCCAGGGA[-/T]TCAGACCATGTCAGC | 326 |
rs773373725 | snp | A/G | 0.000326531 | 0.0127734 | missense | AIRE | GRCh38.p7 | 21:44286070 | GAGATCGCGGTGGCC[A/G]TGGACAGCGCCTTCC | 326 |
rs773495940 | snp | C/T | 1.77143e-05 | 0.00297605 | intron-variant | AIRE | GRCh38.p7 | 21:44286524 | CAGGGTGTGGGGGAC[C/T]ATGGCAGGGACCCTC | 326 |
rs773506800 | snp | C/T | 1.66056e-05 | 0.00288141 | intron-variant | AIRE | GRCh38.p7 | 21:44291083 | TGCATGGGCGTCTCT[C/T]GCCTGTGCCAGAAGA | 326 |
rs773793478 | snp | A/G | 0.000132161 | 0.00812793 | intron-variant | AIRE | GRCh38.p7 | 21:44293201 | AGTGGGGGTCAGGGT[A/G]GGCTCTTCAAGGAGC | 326 |
rs773868932 | snp | G/T | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298419 | TTATTTTACTCAGCA[G/T]GGTGGCCCCAAGGTT | 326 |
rs773945988 | snp | A/G | 5.56065e-05 | 0.00527259 | intron-variant | AIRE | GRCh38.p7 | 21:44287511 | GCCCCCAGCTCCCCC[A/G]TTCAGGCTCTCAACT | 326 |
rs774168916 | snp | A/G | 0.000182565 | 0.00955244 | missense | AIRE | GRCh38.p7 | 21:44286019 | CCCATGGCGACGGAC[A/G]CGGCGCTACGCCGGC | 326 |
rs774261565 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295015 | GGACCTGGGTGGCGC[A/G]GAGACCCCTGACTGC | 326 |
rs774298250 | snp | A/G | 6.67891e-05 | 0.00577842 | synonymous-codon | AIRE | GRCh38.p7 | 21:44294458 | AGCCCCTGTGGAGGG[A/G]GTGCTGGCCCCCAGC | 326 |
rs774478020 | in-del | -/C | 1.73863e-05 | 0.00294836 | intron-variant | AIRE | GRCh38.p7 | 21:44292979 | CCCCTCTGATGCTGA[-/C]CCTTGGGTTCCAGCT | 326 |
rs774484567 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44296753 | CCCTCCCCTGAGGGC[C/T]TGCACCCTGGCAGGC | 326 |
rs774507800 | snp | C/T | 0.00029986 | 0.0122409 | intron-variant | AIRE | GRCh38.p7 | 21:44288330 | GGTGACCCCAATGGG[C/T]GTTCCCTTTCCCAGG | 326 |
rs774634852 | snp | A/T | 1.67522e-05 | 0.0028941 | missense | AIRE | GRCh38.p7 | 21:44288455 | CAGCAGGTGTTTGAG[A/T]CAGGTAGACGCTGTG | 326 |
rs774645330 | snp | C/G | 1.74336e-05 | 0.00295237 | intron-variant | AIRE | GRCh38.p7 | 21:44286934 | CACCCTACCCCTGGA[C/G]AAAACCCTGAGGTTG | 326 |
rs774680439 | snp | A/G | 1.76796e-05 | 0.00297312 | missense | AIRE | GRCh38.p7 | 21:44287100 | CGAGCTGCCGCGCCA[A/G]CAGCCCTGACTCCAA | 326 |
rs774749826 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44294344 | CCACACCCCATACCC[C/T]GGAGGTGGCACTCCT | 326 |
rs774974837 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44291596 | CAGAGGCCACAGAGC[C/T]GTGCCCCCCAGGGCA | 326 |
rs775117249 | snp | A/G | 0.000103869 | 0.00720582 | synonymous-codon | AIRE | GRCh38.p7 | 21:44287042 | CAAGGCTTTGGTACC[A/G]CCACCCAGACTCCCC | 326 |
rs775120946 | snp | C/G | 1.91485e-05 | 0.00309417 | missense | AIRE | GRCh38.p7 | 21:44290040 | TTCCCGCCCCTCTGG[C/G]CCTCCCCAGTGACCC | 326 |
rs775152741 | snp | A/G | 8.88976e-05 | 0.0066664 | intron-variant | AIRE | GRCh38.p7 | 21:44292948 | CTCCTGGGTGGTGCC[A/G]GGCAGGCGCCCGCTG | 326 |
rs775210978 | snp | C/T | 1.77514e-05 | 0.00297916 | missense | AIRE | GRCh38.p7 | 21:44287125 | CTCCAAGGGGCACCG[C/T]CAGCCCAGGTACCCT | 326 |
rs775274388 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285154 | CACTCAGGACCCCCG[C/T]TGTGGGGCTGGCCGC | 326 |
rs775297065 | snp | A/G | 3.32491e-05 | 0.00407719 | missense | AIRE | GRCh38.p7 | 21:44288386 | CAGAGAGCTGTGGCC[A/G]TGTCCTCCGGGGACG | 326 |
rs775297197 | in-del | -/GGACC | 0.000739782 | 0.0192183 | intron-variant | AIRE | GRCh38.p7 | 21:44293219 | TCTTCAAGGAGCCCA[-/GGACC]GGACCTACGGGGCGG | 326 |
rs775304437 | snp | C/T | 3.3335e-05 | 0.00408245 | synonymous-codon | AIRE | GRCh38.p7 | 21:44288433 | GGCCGTGGAGGGGAT[C/T]CTCATCCAGCAGGTG | 326 |
rs775335972 | snp | C/T | 1.89582e-05 | 0.00307876 | intron-variant | AIRE | GRCh38.p7 | 21:44293944 | CGGGGAGGCCTGAAC[C/T]CACACCCACACCCTA | 326 |
rs775341974 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295649 | GTGAAATGTAACGCC[A/G]TGTCAGAGGAAAAGT | 326 |
rs775349581 | snp | C/T | 0.000160205 | 0.00894857 | missense | AIRE | GRCh38.p7 | 21:44294403 | TCCTCTGCTGCAGGA[C/T]GGGCCTGCGCTGCAG | 326 |
rs775495071 | snp | A/T | 1.65734e-05 | 0.00287862 | intron-variant | AIRE | GRCh38.p7 | 21:44290965 | CCCTGGCAGCATGGG[A/T]GCAGGGCAGAGACTG | 326 |
rs775611325 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44290878 | GGTTTTCTTCCCAAT[A/G]GGGATGGCCCCGGGG | 326 |
rs775664933 | snp | C/T | | | utr-variant-3-prime, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298202 | TTTTCAGTTCAGTGG[C/T]ATTCACATCTCATGT | 326 |
rs775701048 | snp | A/G | 1.66818e-05 | 0.00288802 | intron-variant | AIRE | GRCh38.p7 | 21:44288312 | GGAACAGTCTTCCCC[A/G]CGGGTGACCCCAATG | 326 |
rs775784133 | snp | A/C | 1.6693e-05 | 0.00288898 | intron-variant | AIRE | GRCh38.p7 | 21:44296455 | AGCGAGGTAACGCCT[A/C]CCCTGGCCTCCTGGT | 326 |
rs775787296 | snp | A/G/T | 6.65474e-05 | 0.00576803 | missense | AIRE | GRCh38.p7 | 21:44286681 | TGTTCAAGGACTACA[A/G/T]CCTGGAGCGCTATGG | 326 |
rs775793072 | snp | G/T | 1.69493e-05 | 0.00291108 | intron-variant | AIRE | GRCh38.p7 | 21:44286763 | TCAGCCATGCTGGGG[G/T]CCTGGGGCAGCTGCT | 326 |
rs775813007 | snp | C/T | 1.68559e-05 | 0.00290304 | missense | AIRE | GRCh38.p7 | 21:44289741 | GTGGGAAGAACAAGG[C/T]CCGCAGCAGCAGTGG | 326 |
rs775896896 | snp | C/T | 3.43525e-05 | 0.00414428 | missense | AIRE | GRCh38.p7 | 21:44289798 | GAGCCCAGGGCGCTG[C/T]CCCCGTAAGCACCTG | 326 |
rs775921321 | snp | A/G | 6.96718e-05 | 0.00590179 | missense | AIRE | GRCh38.p7 | 21:44291198 | TGTCCCCTCCGCTCC[A/G]GGAGATCCCCAGGTG | 326 |
rs776013167 | snp | C/T | 3.97519e-05 | 0.00445807 | intron-variant | AIRE | GRCh38.p7 | 21:44291251 | ACCAGGCCACCCCGG[C/T]TCACGGCCGCCTCCA | 326 |
rs776126023 | in-del | -/C | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284992 | CCCCACTCACGTCCA[-/C]CCTGGGACCCTCGGC | 326 |
rs776132956 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44293554 | AGCAGGAGAGAGGTG[C/T]GGGCGCCAGGCTTGC | 326 |
rs776250447 | snp | A/T | 6.36294e-05 | 0.00564009 | intron-variant | AIRE | GRCh38.p7 | 21:44292441 | GGGCCACCCCTCCTG[A/T]CCACATGGCCACGCC | 326 |
rs776265045 | snp | A/C | 2.09633e-05 | 0.00323747 | intron-variant | AIRE | GRCh38.p7 | 21:44289962 | GCTGAGGCTGCCCCC[A/C]TTGCTGACGCCCCTC | 326 |
rs776365819 | snp | A/G | 7.40288e-05 | 0.0060835 | intron-variant | AIRE | GRCh38.p7 | 21:44293930 | GTGAGCGTGGTCGGC[A/G]GGGAGGCCTGAACCC | 326 |
rs776389119 | snp | A/G | 1.66852e-05 | 0.0028883 | intron-variant | AIRE | GRCh38.p7 | 21:44288302 | TATGTGCTTGGGAAC[A/G]GTCTTCCCCACGGGT | 326 |
rs776437891 | in-del | -/C | 0.000146128 | 0.00854649 | frameshift-variant | AIRE | GRCh38.p7 | 21:44293141 | CTCCTCGGCCCTGCA[-/C]CCCCCTACTGTGTGT | 326 |
rs776581217 | snp | A/C/G | 8.33235e-05 | 0.00645412 | intron-variant | AIRE | GRCh38.p7 | 21:44290862 | AGCCTGCAAGAAACC[A/C/G]GGTTTTCTTCCCAAT | 326 |
rs776704671 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44288243 | CTGCCCTGGCTGGAA[A/G]GAAAGGGCTCTGCAG | 326 |
rs776768410 | snp | G/T | 1.71275e-05 | 0.00292634 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293070 | CGGCATGGACACGAC[G/T]CTTGTCTACAAGCAC | 326 |
rs776770003 | in-del | -/TC | | | intron-variant | AIRE | GRCh38.p7 | 21:44287263 | CTGGGGCTGTGGGGG[-/TC]TCCTCTGGGTACTAG | 326 |
rs776836665 | snp | A/G | 1.66827e-05 | 0.00288809 | synonymous-codon | AIRE | GRCh38.p7 | 21:44286706 | CTATGGCCGGCTGCA[A/G]CCCATCCTGGACAGC | 326 |
rs776886148 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44290343 | CTCTCAGCTGGGCCC[C/G]TGGGTGGGCCGGGCG | 326 |
rs776936504 | snp | C/T | 1.66776e-05 | 0.00288765 | intron-variant | AIRE | GRCh38.p7 | 21:44296360 | GGGAGTTGGGCTGAC[C/T]TCTTCTCTTTACTGG | 326 |
rs776951380 | snp | A/C | 5.17397e-05 | 0.00508598 | missense | AIRE | GRCh38.p7 | 21:44291171 | GCCCTCGGGCCTTCC[A/C]CCTGGCCTGCCTGTC | 326 |
rs777055856 | snp | C/T | 1.72478e-05 | 0.00293659 | intron-variant | AIRE | GRCh38.p7 | 21:44293782 | CCCGCGCTGTTGCCT[C/T]CCACAGAACCTGGCT | 326 |
rs777128767 | snp | G/T | 3.45054e-05 | 0.00415349 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297766 | CTCTGATGAGAGAGT[G/T]CTGAGAAGGACACCT | 326 |
rs777194925 | snp | C/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296083 | TGGGCCTCAGACTTC[C/G]CCTCTCAGAGTGGGA | 326 |
rs777217133 | snp | C/T | 1.6574e-05 | 0.00287867 | intron-variant | AIRE | GRCh38.p7 | 21:44291017 | TGCTGCTGGGGGAGC[C/T]GTTTTGGGAAGGAGG | 326 |
rs777218693 | snp | C/T | 1.66117e-05 | 0.00288194 | intron-variant | AIRE | GRCh38.p7 | 21:44291089 | GGCGTCTCTTGCCTG[C/T]GCCAGAAGAATGAGG | 326 |
rs777280261 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284808 | GGTTCTCTGCAGCCT[A/G]CACACAGGGCCTGCT | 326 |
rs777290325 | snp | A/G | 1.6646e-05 | 0.00288491 | synonymous-codon | AIRE | GRCh38.p7 | 21:44288346 | GTTCCCTTTCCCAGG[A/G]ATTCAGACCATGTCA | 326 |
rs777399831 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44295447 | AGCTGTCACTGTCCC[C/T]TTCCTTCTAGAAGCC | 326 |
rs777407927 | snp | A/C | 6.63075e-05 | 0.00575755 | intron-variant | AIRE | GRCh38.p7 | 21:44290938 | AACAGGTGGTCAGGG[A/C]AGAATTTCAGGCCCT | 326 |
rs777485890 | snp | A/C/G | 0.000164785 | 0.00907555 | intron-variant | AIRE | GRCh38.p7 | 21:44294369 | ACTCCTGCTCCCCCC[A/C/G]AGGGCTGGCAGCCCC | 326 |
rs777675955 | snp | A/G | 6.69938e-05 | 0.00578726 | missense | AIRE | GRCh38.p7 | 21:44286729 | TGGACAGCTTCCCCA[A/G]AGGTGGGTCCTGGTG | 326 |
rs777693599 | snp | C/G | 1.88301e-05 | 0.00306834 | intron-variant | AIRE | GRCh38.p7 | 21:44291241 | TGCCAGCGCAACCAG[C/G]CCACCCCGGTTCACG | 326 |
rs777798500 | snp | C/T | 1.6676e-05 | 0.00288751 | missense | AIRE | GRCh38.p7 | 21:44296432 | GGGATGACCTGGAGT[C/T]CCTTCTGAGCGAGGT | 326 |
rs777866382 | snp | A/C/T | 3.42338e-05 | 0.00413714 | synonymous-codon | AIRE | GRCh38.p7 | 21:44289787 | TCGAGCCAAGGGAGC[A/C/T]CAGGGCGCTGCCCCC | 326 |
rs778067704 | snp | A/G | 1.67795e-05 | 0.00289646 | missense | AIRE | GRCh38.p7 | 21:44289713 | ACTCCCAGCAAGTTC[A/G]AAGACTCCGGCAGTG | 326 |
rs778079549 | snp | A/C | | | intron-variant | AIRE | GRCh38.p7 | 21:44292111 | TCACGCTGGCCAGGG[A/C]CACCCCACGAAGGGT | 326 |
rs778082359 | snp | A/C/G | 0.000137748 | 0.00829804 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297764 | AGCTCTGATGAGAGA[A/C/G]TGCTGAGAAGGACAC | 326 |
rs778148534 | snp | A/G/T | 3.85752e-05 | 0.00439163 | missense | AIRE | GRCh38.p7 | 21:44290030 | CAGGGCAGCGTTCCC[A/G/T]CCCCTCTGGCCCTCC | 326 |
rs778177000 | snp | A/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285636 | CACATTCGGAAGTGA[A/G]AGTTCTCTGAGTCCC | 326 |
rs778235248 | snp | C/T | 0.000104433 | 0.00722535 | intron-variant | AIRE | GRCh38.p7 | 21:44290117 | TGCCCTTGCTCCCCT[C/T]GGGTGGGTCCTGCTG | 326 |
rs778324245 | snp | C/T | 6.64187e-05 | 0.00576237 | intron-variant | AIRE | GRCh38.p7 | 21:44290900 | GCCCCGGGGGGTGTC[C/T]GTTGGAGACCAGATG | 326 |
rs778368138 | in-del | -/A | 3.43318e-05 | 0.00414303 | intron-variant | AIRE | GRCh38.p7 | 21:44290791 | CTGGCCCCACTGCCC[-/A]TGTGAGGAAGGGTTC | 326 |
rs778427208 | snp | A/G/T | 3.39901e-05 | 0.00412239 | missense | AIRE | GRCh38.p7 | 21:44293032 | GGAGAGGAGGTAAGA[A/G/T]GTCCACCTGGGGAAC | 326 |
rs778455817 | in-del | -/CCCCCAGCTGCATGCAGGCTGAAC | 1.6748e-05 | 0.00289374 | cds-indel | AIRE | GRCh38.p7 | 21:44286596 | AGGGCTGCCCCCAGG[-/CCCCCAGCTGCATGCAGGCTGAAC]CCTTCCACGCCCTCC | 326 |
rs778513360 | in-del | -/A | | | downstream-variant-500B, upstream-variant-2KB | AIRE, PFKL | GRCh38.p7 | 21:44298346 | TTCTGTCTCTATGAC[-/A]TTCTCCAGGGACCTC | 326 |
rs778809453 | snp | C/T | 1.67677e-05 | 0.00289544 | missense | AIRE | GRCh38.p7 | 21:44289699 | GCGGGGAGTTCTACA[C/T]TCCCAGCAAGTTCGA | 326 |
rs778926390 | snp | C/T | 5.44509e-05 | 0.00521752 | intron-variant | AIRE | GRCh38.p7 | 21:44287169 | GCCAGCCAGGGTCTC[C/T]AGTCTTCCCGGGCTT | 326 |
rs778929451 | snp | C/T | 1.66866e-05 | 0.00288842 | missense | AIRE | GRCh38.p7 | 21:44291122 | GAGTGTGCCGTGTGT[C/T]GGGACGGCGGGGAGC | 326 |
rs778940678 | in-del | -/AG | 1.68781e-05 | 0.00290495 | splice-acceptor-variant | AIRE | GRCh38.p7 | 21:44297654 | TCACTCTGTCCCGCA[-/AG]GCACACCTTCGATGG | 326 |
rs779002429 | snp | G/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44295926 | GGGGAATTCCACAGG[G/T]TTCAATGTAATATGG | 326 |
rs779005908 | snp | A/G | 3.40483e-05 | 0.0041259 | intron-variant | AIRE | GRCh38.p7 | 21:44289623 | CAGGTCCTGCTGGGC[A/G]GGTGAGCCAGGACCA | 326 |
rs779035374 | snp | A/C/G | 3.42696e-05 | 0.00413931 | utr-variant-3-prime | AIRE | GRCh38.p7 | 21:44297755 | GGGACATGCAGCTCT[A/C/G]ATGAGAGAGTGCTGA | 326 |
rs779080108 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44287359 | GAAGTAGGCGGGCGG[A/G]TCTCATTTCCCTTTT | 326 |
rs779092108 | snp | C/T | 0.000229834 | 0.0107175 | missense | AIRE | GRCh38.p7 | 21:44287095 | AGGCTCGAGCTGCCG[C/T]GCCAGCAGCCCTGAC | 326 |
rs779098597 | snp | A/G | 2.13573e-05 | 0.00326775 | intron-variant | AIRE | GRCh38.p7 | 21:44289944 | GCCATGTGCACCCTC[A/G]CTGCTGAGGCTGCCC | 326 |
rs779142964 | snp | A/G | 1.67767e-05 | 0.00289622 | synonymous-codon | AIRE | GRCh38.p7 | 21:44297676 | CTTCGATGGCATCCT[A/G]CAGTGGGCCATCCAG | 326 |
rs779291375 | snp | A/C | 2.89214e-05 | 0.00380261 | intron-variant | AIRE | GRCh38.p7 | 21:44292424 | CACGCCCCCTCCTAG[A/C]CGGGCCACCCCTCCT | 326 |
rs779472330 | snp | A/G | 3.36264e-05 | 0.00410026 | missense | AIRE | GRCh38.p7 | 21:44286584 | CTGAAGGAAAAGGAG[A/G]GCTGCCCCCAGGCCT | 326 |
rs779500580 | snp | C/G | 1.84544e-05 | 0.00303758 | missense | AIRE | GRCh38.p7 | 21:44293086 | CTTGTCTACAAGCAC[C/G]TGCCGGCTCCGCCTT | 326 |
rs779510704 | snp | A/T | 6.44725e-05 | 0.00567733 | missense | AIRE | GRCh38.p7 | 21:44294454 | CCCCAGCCCCTGTGG[A/T]GGGGGTGCTGGCCCC | 326 |
rs779589936 | snp | A/C | 1.70563e-05 | 0.00292025 | missense | AIRE | GRCh38.p7 | 21:44293046 | AGGTCCACCTGGGGA[A/C]CCCCTAGCCGGCATG | 326 |
rs779666802 | snp | C/T | 0.000162009 | 0.00899879 | intron-variant | AIRE | GRCh38.p7 | 21:44286166 | CCCGCCCCCCGCTGC[C/T]CCCAGGCCCTGTGAG | 326 |
rs779725226 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44288698 | CCCACCCGGGATGTA[C/T]AGCACTCCCCAGTCA | 326 |
rs779752072 | snp | A/G | 1.70481e-05 | 0.00291955 | intron-variant | AIRE | GRCh38.p7 | 21:44289616 | GCCAAGGCAGGTCCT[A/G]CTGGGCGGGTGAGCC | 326 |
rs779781834 | snp | A/C/T | 3.5654e-05 | 0.00422208 | intron-variant | AIRE | GRCh38.p7 | 21:44290757 | AGCAGGCGCTGAGGT[A/C/T]GGGAGAGACCTCCCT | 326 |
rs779927863 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44290207 | GGTACAGCTCTTTTT[C/T]TTTAATAGACAGTAT | 326 |
rs779937061 | in-del | -/GCCTGTCCCCTCC | 0.00100994 | 0.0224488 | frameshift-variant | AIRE | GRCh38.p7 | 21:44291180 | CCTTCCACCTGGCCT[-/GCCTGTCCCCTCC]GCTCCGGGAGATCCC | 326 |
rs780049983 | snp | C/G | 3.31796e-05 | 0.00407292 | intron-variant | AIRE | GRCh38.p7 | 21:44291065 | CTGCACCCCAGCCCA[C/G]TCTGCATGGGCGTCT | 326 |
rs780067507 | snp | A/G | 7.9496e-05 | 0.0063041 | missense | AIRE | GRCh38.p7 | 21:44290016 | CTAGGCTGGGCCAGC[A/G]GGGCAGCGTTCCCGC | 326 |
rs780148497 | snp | C/G/T | 3.41858e-05 | 0.00413424 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293809 | GGCTCCTGGTGCGCG[C/G/T]TGCGGGGTGTGCGGA | 326 |
rs780248375 | snp | A/G | 3.36638e-05 | 0.00410253 | missense | AIRE | GRCh38.p7 | 21:44297665 | CCGCAGCACACCTTC[A/G]ATGGCATCCTGCAGT | 326 |
rs780336146 | snp | A/G | 3.50693e-05 | 0.00418729 | intron-variant | AIRE | GRCh38.p7 | 21:44293762 | CCCCCGGCCCCCCGC[A/G]TCACCCCGCGCTGTT | 326 |
rs780370681 | snp | A/G | 7.83055e-05 | 0.00625672 | synonymous-codon | AIRE | GRCh38.p7 | 21:44292332 | CTCCAGCTGCCTGCA[A/G]GCAACAGTCCAGGAG | 326 |
rs780442837 | snp | A/G | 0.000134469 | 0.00819857 | intron-variant | AIRE | GRCh38.p7 | 21:44297612 | GATTCTGTGGCTGCG[A/G]CGGGGGCGCACCTGG | 326 |
rs780450586 | in-del | -/GTGC | 1.67038e-05 | 0.00288992 | intron-variant | AIRE | GRCh38.p7 | 21:44296469 | TCCCCTGGCCTCCTG[-/GTGC]TCCTCCACTCCCCCT | 326 |
rs780454783 | snp | C/T | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284537 | GGCGGTAGGAGAAAC[C/T]GAGACCGACCCCTGG | 326 |
rs780642720 | snp | A/C | 6.97022e-05 | 0.00590307 | intron-variant | AIRE | GRCh38.p7 | 21:44288503 | ATGGGGAGACCCAGG[A/C]TCCAAGATGGAAGGA | 326 |
rs780730527 | snp | C/G | 0.000159451 | 0.0089275 | intron-variant | AIRE | GRCh38.p7 | 21:44286153 | GGTGGGCTCCCCGCC[C/G]GCCCCCCGCTGCCCC | 326 |
rs780816581 | snp | C/G | 6.01667e-05 | 0.0054845 | missense | AIRE | GRCh38.p7 | 21:44294447 | GACGTGACCCCAGCC[C/G]CTGTGGAGGGGGTGC | 326 |
rs780825354 | snp | C/T | 8.79933e-05 | 0.00663241 | intron-variant | AIRE | GRCh38.p7 | 21:44293759 | TTTCCCCCGGCCCCC[C/T]GCGTCACCCCGCGCT | 326 |
rs780838923 | snp | A/G | 1.66493e-05 | 0.0028852 | missense | AIRE | GRCh38.p7 | 21:44288422 | GGAGCCCGAGGGGCC[A/G]TGGAGGGGATCCTCA | 326 |
rs780906602 | snp | A/G | 1.72427e-05 | 0.00293616 | splice-acceptor-variant | AIRE | GRCh38.p7 | 21:44292992 | GACCCTTGGGTTCCA[A/G]CTCCCCCCGGGGCTT | 326 |
rs780919403 | snp | C/T | 1.65836e-05 | 0.0028795 | intron-variant | AIRE | GRCh38.p7 | 21:44291050 | GCTCTCAGGAGGGTG[C/T]TGCACCCCAGCCCAG | 326 |
rs780985054 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44293373 | ACTCCAGCTCCTGGC[C/T]CTGGGCATTACTGCT | 326 |
rs781020126 | snp | C/T | 1.65734e-05 | 0.00287862 | intron-variant | AIRE | GRCh38.p7 | 21:44290956 | AATTTCAGGCCCTGG[C/T]AGCATGGGAGCAGGG | 326 |
rs781171312 | snp | C/T | 1.68718e-05 | 0.00290441 | intron-variant | AIRE | GRCh38.p7 | 21:44286748 | TGGGTCCTGGTGGAC[C/T]CAGCCATGCTGGGGG | 326 |
rs781178030 | snp | C/G | 1.73387e-05 | 0.00294432 | missense | AIRE | GRCh38.p7 | 21:44287008 | AGCCCCGGAAGGGGA[C/G]GAAGCCCCCGGCCGT | 326 |
rs781190793 | snp | C/T | | | intron-variant | AIRE | GRCh38.p7 | 21:44292079 | GTTCATCAGAGAGCA[C/T]GCCAAGGGGACCCTG | 326 |
rs781217882 | snp | A/G | 1.75631e-05 | 0.00296332 | intron-variant | AIRE | GRCh38.p7 | 21:44297605 | TGGCCATGATTCTGT[A/G]GCTGCGGCGGGGGCG | 326 |
rs781218872 | snp | G/T | 6.32851e-05 | 0.00562482 | missense | AIRE | GRCh38.p7 | 21:44293158 | CCCCTACTGTGTGTG[G/T]GTCCTGAGGGTCAGC | 326 |
rs781319471 | snp | A/G | 3.3687e-05 | 0.00410395 | missense | AIRE | GRCh38.p7 | 21:44297702 | TCCAGAGCATGGCCC[A/G]TCCGGCGGCCCCCTT | 326 |
rs781375466 | snp | C/G/T | 8.81195e-05 | 0.00663724 | intron-variant | AIRE | GRCh38.p7 | 21:44289848 | GCTCTTGATGCCCCC[C/G/T]GCCCCAGGAACAGCG | 326 |
rs781400305 | snp | A/G | 1.70081e-05 | 0.00291612 | intron-variant | AIRE | GRCh38.p7 | 21:44292296 | GACTGGTGGACACAC[A/G]AGCAGTGGGACCTGG | 326 |
rs781470144 | in-del | -/CCAAGC | 0.000207361 | 0.0101803 | cds-indel | AIRE | GRCh38.p7 | 21:44287532 | GCTCTCAACTGAAGG[-/CCAAGC]CCCCCAAGAAGCCGG | 326 |
rs781502496 | snp | C/T | 1.74741e-05 | 0.0029558 | synonymous-codon | AIRE | GRCh38.p7 | 21:44293863 | TACTCACTGCGCCGC[C/T]GCCTTCCACTGGCGC | 326 |
rs781521426 | snp | C/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44284708 | CTTCCTGGTACCTTC[C/G]TCCACCCTTCAGCCC | 326 |
rs781572484 | snp | A/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44295275 | GTGACAGGCCACCCC[A/G]GCGTGGTACTCCCCA | 326 |
rs781592011 | in-del | -/G | 1.6654e-05 | 0.00288561 | intron-variant | AIRE | GRCh38.p7 | 21:44290890 | AATAGGGATGGCCCC[-/G]GGGGGTGTCTGTTGG | 326 |
rs781592443 | snp | C/G | 7.2372e-05 | 0.00601504 | intron-variant | AIRE | GRCh38.p7 | 21:44293917 | CCGGCCCGGGTGAGT[C/G]AGCGTGGTCGGCGGG | 326 |
rs781767035 | snp | C/T | 6.70623e-05 | 0.00579022 | intron-variant | AIRE | GRCh38.p7 | 21:44290827 | GTTGGTGTACAGTTC[C/T]GGGGCCCCTGGAACG | 326 |
rs786204478 | snp | C/T | | | splice-donor-variant | AIRE | GRCh38.p7 | 21:44287135 | CACCGCCAGCCCAGG[C/T]ACCCTCCCTGCAGGG | 326 |
rs786204567 | in-del | -/C | | | frameshift-variant | AIRE | GRCh38.p7 | 21:44293146 | CGGCCCTGCACCCCC[-/C]TACTGTGTGTGGGTC | 326 |
rs796440116 | snp | C/G | | | upstream-variant-2KB | AIRE | GRCh38.p7 | 21:44285334 | GGTCAGGAGCTCCCT[C/G]GCAACACCCAGGCTG | 326 |
rs796527725 | in-del | -/G | | | intron-variant | AIRE | GRCh38.p7 | 21:44296836 | GGGAGTGGGGGGGGG[-/G]TCCCAGACCCCGTCC | 326 |