SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs10068 | snp | C/G | 0.480382 | 0.097079 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35574946 | TAAGAGTTTGCTAAA[C/G]TGTCATGAATTATTC | 5193 |
rs191198 | snp | C/G | | | intron-variant | PEX12 | GRCh38.p7 | 17:35576487 | TTTTTTTTTTTTTTT[C/G]TGGATCACTATCTTC | 5193 |
rs192942 | snp | C/T | | | intron-variant | PEX12 | GRCh38.p7 | 17:35576607 | GCCTAAGACTGTGCT[C/T]TTAATCATGATGCTG | 5193 |
rs321599 | snp | A/G | 0.494272 | 0.053207 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35578726 | AAAACCAGCCCACAA[A/G]GGCCCTCTTCTGTTT | 5193 |
rs321600 | snp | C/T | 0.215144 | 0.247558 | utr-variant-5-prime | PEX12 | GRCh38.p7 | 17:35578449 | GCTGGAGTCAGCCCT[C/T]GTGTCCCGGGCTCAC | 5193 |
rs1037590 | snp | A/C | 0.367091 | 0.220884 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35575616 | CCCATTTGATCCTAA[A/C]CTTTTAGCCTGCTCT | 5193 |
rs1037591 | snp | A/T | 0.167809 | 0.236103 | downstream-variant-500B | PEX12, LOC105371743 | GRCh38.p7 | 17:35574544 | GAGCCTCTGCTGACA[A/T]AAGTGTTTTCCAATA | 5193 |
rs1046321 | snp | A/G | 0.434727 | 0.168451 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35575265 | AACACTCTGGGGGGG[A/G]AAAAAGCTCCTTCCA | 5193 |
rs1046326 | snp | A/T | 0 | 0 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35575092 | AAAAGGAATAGGGGT[A/T]GAGTGTTACAGAGAG | 5193 |
rs1046335 | snp | A/G | 0 | 0 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35574865 | ATGTTTCTGGAAAAG[A/G]ACTATGTTATGATTT | 5193 |
rs1046336 | snp | G/T | 0 | 0 | downstream-variant-500B | PEX12, LOC105371743 | GRCh38.p7 | 17:35574789 | ATTCAGACTACCTTT[G/T]ACTTTTTGAGGTGTT | 5193 |
rs2278950 | snp | C/T | 0.1652 | 0.235179 | utr-variant-5-prime | PEX12 | GRCh38.p7 | 17:35578555 | TCATAAAGCGGAGAC[C/T]TCCCTTCAAACGTGG | 5193 |
rs2278951 | snp | A/C | 0.0923359 | 0.194016 | intron-variant | PEX12 | GRCh38.p7 | 17:35577773 | AACTTGTATCCCATG[A/C]CTTAAGAGTTACTGA | 5193 |
rs2376178 | snp | C/T | | | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35580499 | acccaggctggagtg[C/T]aatggtgcaatctcg | 5193 |
rs2889311 | snp | C/T | 0.3746 | 0.216737 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35580630 | tcaaactcctgactt[C/T]gtgatccacccgtct | 5193 |
rs3031851 | in-del | -/TT | 0.0611083 | 0.163768 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35575212 | AGTGACATCTATTGT[-/TT]ATCAGCTTTTAAGGA | 5193 |
rs3833130 | in-del | -/AAGT | 0.375 | 0.216506 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35574900 | TCTTAAAATCTACTT[-/AAGT]GTTTCATAGAAACTT | 5193 |
rs5820120 | in-del | -/A | 0.480223 | 0.0974544 | downstream-variant-500B | PEX12, LOC105371743 | GRCh38.p7 | 17:35574396 | TATAAAAGTTTTAAT[-/A]TTTTTTTATTGTCTC | 5193 |
rs12939138 | snp | C/T | 0.0829062 | 0.185956 | downstream-variant-500B | PEX12, LOC105371743 | GRCh38.p7 | 17:35574559 | ATGTCAGCAGAGGCT[C/T]TTAAAAATCATTTTC | 5193 |
rs12941376 | snp | A/T | 0.00610157 | 0.0548958 | missense | PEX12 | GRCh38.p7 | 17:35576129 | CAGTAGACAGGGATA[A/T]GGCAACACCCCCAAC | 5193 |
rs12944488 | snp | A/C | | | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35578787 | TCTGCATGGTAGCCT[A/C]GCTGGAAAGCTACAG | 5193 |
rs16971147 | snp | C/T | 0.00319411 | 0.0398353 | intron-variant | PEX12 | GRCh38.p7 | 17:35576994 | CTGGGATACGATTTT[C/T]GAATTTACTAACTAA | 5193 |
rs16971156 | snp | G/T | 0.0923359 | 0.194016 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35579097 | ATGAACCTTTCTCAA[G/T]CCAATCATCTTTCCT | 5193 |
rs17852912 | snp | A/G/T | 6.62263e-05 | 0.00575402 | missense, synonymous-codon | PEX12 | GRCh38.p7 | 17:35577309 | CATCCTCTTCTCTCA[A/G/T]GCTAGAAACCAGCTT | 5193 |
rs28936697 | snp | C/T | | | missense | PEX12 | GRCh38.p7 | 17:35575903 | CTGTTCTTGCCACCT[C/T]TGGCTATGTGTTTTG | 5193 |
rs28936698 | snp | A/T | | | missense | PEX12 | GRCh38.p7 | 17:35577445 | TTACGGCTTAAAGAG[A/T]ATTGTAATGGGGGAC | 5193 |
rs34856484 | in-del | -/A | | | intron-variant | PEX12 | GRCh38.p7 | 17:35576502 | GAAAAAAAAAAAAAA[-/A]CCCAATTCACTTAAT | 5193 |
rs35050283 | in-del | -/TAAG | 0.494272 | 0.053207 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35574899 | TTCTTAAAATCTACT[-/TAAG]TGTTTCATAGAAACT | 5193 |
rs35284234 | in-del | -/GC | 0.32768 | 0.237625 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35580499 | CGAGATTGCACCATT[-/GC]ACTCCAGCCTGGGTA | 5193 |
rs35542792 | snp | A/G | 0.234692 | 0.249531 | intron-variant | PEX12 | GRCh38.p7 | 17:35576867 | CACTAAAGTATACCT[A/G]GAATGATGAAGGTTA | 5193 |
rs35774966 | snp | C/G | 0.0825414 | 0.185628 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35580330 | ACCTGAGGTCAAGAG[C/G]TCATGACCAGCCTGA | 5193 |
rs35907291 | in-del | -/C | | | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35579173 | AGTTTAACGTCTTCC[-/C]AGGTTTTGGCTATAT | 5193 |
rs36033015 | in-del | -/C | | | splice-acceptor-variant | PEX12 | GRCh38.p7 | 17:35577592 | TGATTCTGCAAGAAC[-/C]TAAAGCAAAATAAAG | 5193 |
rs56903202 | in-del | -/TCC | | | intron-variant | PEX12 | GRCh38.p7 | 17:35576459 | ATTATATAGACCTCC[-/TCC]CTTTTTTTAGTGGAA | 5193 |
rs60965403 | in-del | -/GT | 0.5 | 0 | intron-variant | PEX12 | GRCh38.p7 | 17:35576184 | CTTCTCACTAACACT[-/GT]TGGGAGAAAAGAACA | 5193 |
rs61752097 | in-del | -/CA | | | frameshift-variant | PEX12 | GRCh38.p7 | 17:35577995 | ACGGGGCTCACTTCA[-/CA]GCTGCTTCTGTGGCC | 5193 |
rs61752098 | in-del | -/CTT | | | cds-indel | PEX12 | GRCh38.p7 | 17:35577514 | TTTACTCTGCTAGAT[-/CTT]CTGCTCCAGCAACAT | 5193 |
rs61752099 | in-del | -/AA | | | frameshift-variant | PEX12 | GRCh38.p7 | 17:35577457 | TTCTGAAAACTTTTA[-/AA]CGGCTTAAAGAGAAT | 5193 |
rs61752100 | in-del | -/AAGA | 8.31276e-05 | 0.00644646 | PEX12 | 17 | allele_origin=A(unknown)/+.-----(germline) | 17:35577447 | AACTTTTACGGCTTA[-/AAGA]GAATTGTAATGGGGG | 5193 |
rs61752101 | in-del | -/T | | | frameshift-variant | PEX12 | GRCh38.p7 | 17:35577409 | CAAGTCTCAGAGATT[-/T]GGCTAGTGCTGGTCT | 5193 |
rs61752102 | in-del | -/AAC | 4.9423e-05 | 0.00497082 | PEX12 | 17 | allele_origin=A(unknown)/+.-----(germline) | 17:35577183 | GGTTTCTTGTACAAC[-/AAC]TTCGATACATCCTAG | 5193 |
rs61752103 | snp | C/G/T | 6.58961e-05 | 0.00573971 | PEX12 | 17 | allele_origin=T(germline)/C(germline) | 17:35577180 | CTTGTACAACAACTT[C/G/T]GATACATCCTAGGAA | 5193 |
rs61752104 | in-del | -/T | 4.94205e-05 | 0.0049707 | PEX12 | 17 | allele_origin=T(unknown)/+.-----(germline) | 17:35577176 | TACAACAACTTCGAT[-/T]ACATCCTAGGAAAAG | 5193 |
rs61752105 | snp | C/T | 3.29457e-05 | 0.00405854 | PEX12 | 17 | allele_origin=T(unknown)/C(germline) | 17:35577114 | GGAGTTCAGCTAGGT[C/T]GACTGACAGTTCAGG | 5193 |
rs61752106 | snp | A/C/T | 4.94184e-05 | 0.00497063 | PEX12 | 17 | allele_origin=T(unknown)/C(germline) | 17:35577093 | ACAGTTCAGGATATA[A/C/T]AAGCTCTGGAGCACA | 5193 |
rs61752107 | in-del | -/GCCT | 4.94825e-05 | 0.00497381 | PEX12 | 17 | allele_origin=G(unknown)/+.-----(germline) | 17:35576128 | TTGGGGGTGTTGCCT[-/GCCT]TATCCCTGTCTACTG | 5193 |
rs61752108 | in-del | -/T | | | frameshift-variant | PEX12 | GRCh38.p7 | 17:35576117 | GCCTTATCCCTGTCT[-/T]ACTGGCCTTTCTGTG | 5193 |
rs61752109 | in-del | -/CT | | | frameshift-variant | PEX12 | GRCh38.p7 | 17:35575986 | ACCTAGACTATAACT[-/CT]GATTCTCCCCTCTTA | 5193 |
rs61752110 | in-del | -/TC | | | frameshift-variant | PEX12 | GRCh38.p7 | 17:35575974 | ACTCTGATTCTCCCC[-/TC]TTACCCAAAATGAAG | 5193 |
rs61752111 | in-del | -/T | | | frameshift-variant | PEX12 | GRCh38.p7 | 17:35575975 | ACTCTGATTCTCCCC[-/T]CTTACCCAAAATGAA | 5193 |
rs61752112 | snp | C/T | | | missense | PEX12 | GRCh38.p7 | 17:35575913 | GTGAATGATACTGTT[C/T]TTGCCACCTCTGGCT | 5193 |
rs62642859 | in-del | -/TAGT | 1.65921e-05 | 0.00288024 | PEX12 | 17 | allele_origin=T(unknown)/+.-----(germline) | 17:35576175 | TTCTCCCAACAGTGT[-/TAGT]GAGAAGATAAACTCA | 5193 |
rs66778923 | in-del | -/A | 0.5 | 0 | intron-variant | PEX12 | GRCh38.p7 | 17:35576488 | AAGATAGTGATCCAG[-/A]AAAAAAAAAAAAAAC | 5193 |
rs67625342 | in-del | -/A | | | downstream-variant-500B | PEX12, LOC105371743 | GRCh38.p7 | 17:35574397 | ATAAAAGTTTTAATT[-/A]TTTTTTATTGTCTCA | 5193 |
rs71366461 | in-del | -/C | 0.5 | 0 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35580284 | GAACGCCTATAATCC[-/C]AGCACTTTGGGAGGC | 5193 |
rs71366462 | in-del | -/G | 0.5 | 0 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35580286 | CGCCTATAATCCCAG[-/G]CACTTTGGGAGGCCG | 5193 |
rs71366463 | in-del | -/C | 0.5 | 0 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35580288 | CCTATAATCCCAGCA[-/C]CTTTGGGAGGCCGAG | 5193 |
rs72828042 | snp | A/G | 0.0205511 | 0.0992634 | intron-variant | PEX12 | GRCh38.p7 | 17:35577813 | TTGGCTATTTCAAAC[A/G]CTAGGCTACCAAATA | 5193 |
rs75777510 | snp | A/C | | | intron-variant | PEX12 | GRCh38.p7 | 17:35576503 | AAAAAAAAAAAAAAA[A/C]CCAATTCACTTAATA | 5193 |
rs76127905 | snp | C/G | 0.5 | 0 | missense | PEX12 | GRCh38.p7 | 17:35575928 | GAACAGTATCATTCA[C/G]CCGGGTTTTACGACA | 5193 |
rs79093184 | snp | A/G | 0.0923359 | 0.194016 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35579713 | AAAAGACATTATATT[A/G]ATATATGATTTTTAC | 5193 |
rs80198380 | snp | A/T | | | downstream-variant-500B | PEX12, LOC105371743 | GRCh38.p7 | 17:35574397 | TATAAAAGTTTTAAT[A/T]TTTTTTATTGTCTCA | 5193 |
rs104894616 | snp | A/T | | | stop-gained | PEX12 | GRCh38.p7 | 17:35576171 | AACAGTGTTAGTGAG[A/T]AGATAAACTCAGCTC | 5193 |
rs111424374 | snp | A/G | 0.0287284 | 0.116357 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35575146 | ATGGAGAGCTCATAA[A/G]GGAATATCCTCAAAT | 5193 |
rs111613136 | in-del | -/T | 0.0456336 | 0.143994 | downstream-variant-500B | PEX12, LOC105371743 | GRCh38.p7 | 17:35574597 | CTCTTCTAGTGATGA[-/T]TTTTTTTTAACCCAT | 5193 |
rs112630435 | snp | A/G | 0.5 | 0 | intron-variant | PEX12 | GRCh38.p7 | 17:35576858 | GCAAGTATGCACTAA[A/G]GTATACCTAGAATGA | 5193 |
rs113891712 | snp | A/G | 0.0287284 | 0.116357 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35575485 | TTTAAGGAAAGGGAT[A/G]GGCAAAAACTTGTGT | 5193 |
rs115863189 | snp | G/T | 0.0166325 | 0.0896639 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35580060 | GCCTAACAGGAATTA[G/T]AAGTTCTTATCCAGG | 5193 |
rs116171260 | snp | A/G | 0.0178098 | 0.0926698 | intron-variant | PEX12 | GRCh38.p7 | 17:35576708 | CTTCTATGTACCTAC[A/G]TGACTTTGGCAAGGT | 5193 |
rs116573313 | snp | A/G | 0.0166325 | 0.0896639 | downstream-variant-500B | PEX12, LOC105371743 | GRCh38.p7 | 17:35574791 | CACCTCAAAAAGTCA[A/G]AGGTAGTCTGAATGA | 5193 |
rs138568975 | in-del | -/TG | 0.00634483 | 0.0559657 | splice-acceptor-variant | PEX12 | GRCh38.p7 | 17:35576183 | TCTTCTCACTAACAC[-/TG]TTGGGAGAAAAGAAC | 5193 |
rs138720627 | snp | A/G | 0.00388016 | 0.0438751 | synonymous-codon | PEX12 | GRCh38.p7 | 17:35575995 | AGAATCAGAGTTATA[A/G]TCTAGGTGTACAGGT | 5193 |
rs138731505 | snp | A/G | 0.00414166 | 0.0453175 | missense | PEX12 | GRCh38.p7 | 17:35577267 | AAAATCGTTTCCAGC[A/G]GGAAGAAGGGGGATG | 5193 |
rs139074923 | snp | A/C | 0.00318978 | 0.0398085 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35579174 | AGTTTAACGTCTTCC[A/C]GGTTTTGGCTATATT | 5193 |
rs139417458 | snp | A/C | 0.00323117 | 0.0400642 | missense | PEX12 | GRCh38.p7 | 17:35576140 | GATAAGGCAACACCC[A/C]CAACAGCTTTCTTCA | 5193 |
rs140611267 | snp | A/C | 1.6696e-05 | 0.00288924 | missense | PEX12 | GRCh38.p7 | 17:35577473 | TAAAAGTTTTCAGAA[A/C]ATGAGGCACTGGTTC | 5193 |
rs140983932 | snp | A/G | | | intron-variant | PEX12 | GRCh38.p7 | 17:35576562 | ATATTTGAACTTGTA[A/G]GAGAACACAAATATG | 5193 |
rs141154994 | snp | A/G | 0.00993419 | 0.0697739 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35580429 | TAATCCCAGCTACTC[A/G]GGAGGCTGAGGCAGG | 5193 |
rs141198490 | snp | G/T | 1.64727e-05 | 0.00286986 | synonymous-codon | PEX12 | GRCh38.p7 | 17:35577929 | AGCGGGTCTCACTGC[G/T]GTCATTAAACTGTCC | 5193 |
rs141894911 | snp | A/G | 0.00125568 | 0.0250252 | intron-variant | PEX12 | GRCh38.p7 | 17:35577012 | ATTTACTAACTAAAG[A/G]TCTTTTGGAAATGTT | 5193 |
rs142125426 | snp | C/G | 0.00318978 | 0.0398085 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35578970 | GTGGAAAGGACTTTG[C/G]TGTACGCGTGCGGCA | 5193 |
rs142726996 | snp | A/G | 0.000230612 | 0.0107356 | missense | PEX12 | GRCh38.p7 | 17:35576069 | GATTTTCAGATGAGT[A/G]CCACCAGTCAAGGAA | 5193 |
rs143036724 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | PEX12 | GRCh38.p7 | 17:35577646 | ACACAAGTTCTACAC[C/T]TATTTACATTCCCCC | 5193 |
rs143594736 | in-del | -/TAA | 0.0256215 | 0.110247 | intron-variant | PEX12 | GRCh38.p7 | 17:35576514 | AAAACCCAATTCACT[-/TAA]TAAAAAACTTAGCAG | 5193 |
rs143621995 | snp | C/T | 8.23635e-05 | 0.00641677 | missense | PEX12 | GRCh38.p7 | 17:35578002 | GAAGCAGCTGTGAAG[C/T]GAGCCCCGTGCTCAG | 5193 |
rs143985033 | snp | A/G | 0.000798403 | 0.0199641 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35578718 | CCCCGCTGAAACAGA[A/G]GAGGGCCCTTGTGGG | 5193 |
rs144002763 | snp | C/T | 0.00159617 | 0.0282053 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35579813 | TAATAGTAACTGTTA[C/T]GTACAAGCTTTTCTT | 5193 |
rs144013377 | in-del | -/CCT | 0.450734 | 0.149016 | intron-variant | PEX12 | GRCh38.p7 | 17:35576454 | ATTTGATTATATAGA[-/CCT]CCTCCCTTTTTTTAG | 5193 |
rs144259891 | snp | A/C/T | 8.23654e-05 | 0.00641691 | splice-donor-variant | PEX12 | GRCh38.p7 | 17:35577895 | AGAATTAATACCTTA[A/C/T]CTTGACCACATGCTG | 5193 |
rs144341981 | snp | A/G | | | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35578799 | CCTCGCTGGAAAGCT[A/G]CAGCTCTGAACCTCT | 5193 |
rs144640242 | in-del | -/AAGTG | 0.257176 | 0.249897 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35579829 | GTACAAGCTTTTCTT[-/AAGTG]AATAGCAAAAATACA | 5193 |
rs144826656 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | PEX12 | GRCh38.p7 | 17:35576707 | CCTTCTATGTACCTA[C/T]GTGACTTTGGCAAGG | 5193 |
rs145574816 | snp | C/G | 0.000181194 | 0.00951651 | missense | PEX12 | GRCh38.p7 | 17:35575959 | CAGTGGGCACACAGT[C/G]TTCATTTTGGGTAAG | 5193 |
rs145784404 | snp | A/C/G | 3.3309e-05 | 0.00408089 | | | GRCh38.p7 | 17:35577457 | AATTCTCTTTAAGCC[A/C/G]TAAAAGTTTTCAGAA | 5193 |
rs146515448 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35580094 | CGTTGTTGCAGTGAA[C/T]GAGCTTCCACCAATT | 5193 |
rs146527335 | snp | A/G | 0.00125697 | 0.025038 | intron-variant | PEX12 | GRCh38.p7 | 17:35576211 | GAACAAGGAGGCAAA[A/G]AGAGAAACTTTATTT | 5193 |
rs147182821 | in-del | -/AAC | 0.0923359 | 0.194016 | utr-variant-3-prime | PEX12 | GRCh38.p7 | 17:35575230 | CAATAGATGTCACTT[-/AAC]AAATGTCTCACAGTA | 5193 |
rs147530802 | snp | A/T | 0.0114157 | 0.0746827 | missense | PEX12 | GRCh38.p7 | 17:35577920 | ATGCTGAAGAGCGGG[A/T]CTCACTGCTGTCATT | 5193 |
rs148309381 | in-del | -/TA | | | intron-variant | PEX12 | GRCh38.p7 | 17:35576936 | GCTTTTCTATGACTC[-/TA]TGAAATGCCACAAAG | 5193 |
rs148625489 | snp | A/G | 0.029116 | 0.117091 | upstream-variant-2KB | PEX12 | GRCh38.p7 | 17:35578961 | AATCTGGAGGTGGAA[A/G]GGACTTTGCTGTACG | 5193 |