SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs26532 | snp | A/C | 0.292008 | 0.246445 | intron-variant | ATG12 | GRCh38.p7 | 5:115837981 | TAATTTTTAAAATGC[A/C]TTTTATCTTAACAGG | 9140 |
rs26533 | snp | A/C | 0.448452 | 0.152042 | intron-variant | ATG12 | GRCh38.p7 | 5:115838961 | ACCCCATCTCTACTA[A/C]AAATACAAAAACTTA | 9140 |
rs26534 | snp | A/G | 0.499999 | 0.000599041 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115840004 | TTTAGCTTTTGTTTT[A/G]CACAGCTATCATCAG | 9140 |
rs26535 | snp | G/T | 0.499999 | 0.000599041 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115840219 | GAGTCTGATTTAAAG[G/T]GGGAAGGGGGGCAGT | 9140 |
rs26536 | snp | A/G | 0.500527 | 0.0125746 | upstream-variant-2KB, intron-variant, nc-transcript-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115840892 | CAGTCTTCATTCTGC[A/G]TAAGAATTTGGTTTT | 9140 |
rs26537 | snp | C/T | 0.456214 | 0.141336 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115841317 | TCTAAATTTTGCTTC[C/T]TTACTGGCCGCCACC | 9140 |
rs26538 | snp | C/T | 0.498611 | 0.0263212 | intron-variant, upstream-variant-2KB | AP3S1, ATG12 | GRCh38.p7 | 5:115842698 | ACAGTCTCTCTTCTG[C/T]ATGTTTCGATACGTG | 9140 |
rs40094 | snp | C/T | 0.000399281 | 0.0141238 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115829829 | gccaccgtgccgggc[C/T]TGGACTTTGTACTTT | 9140 |
rs464020 | snp | G/T | 0 | 0 | utr-variant-5-prime, nc-transcript-variant, missense | AP3S1, ATG12 | GRCh38.p7 | 5:115841783 | CGAGCACAGACACGT[G/T]GCCCACCGCTCCTCT | 9140 |
rs566561 | snp | G/T | 0 | 0 | intron-variant | ATG12 | GRCh38.p7 | 5:115832512 | GTATAATATGTATAT[G/T]GTGTAGTATTGTTAA | 9140 |
rs1035876 | snp | G/T | | | intron-variant, upstream-variant-2KB | AP3S1, ATG12 | GRCh38.p7 | 5:115842249 | GCTCGCCAGCTGTCA[G/T]CCTCCTGGTGGGTGT | 9140 |
rs1035877 | snp | G/T | 0 | 0 | intron-variant, upstream-variant-2KB | AP3S1, ATG12 | GRCh38.p7 | 5:115842427 | GGCAGCCGCAGCCCA[G/T]CCGCGCCGCGGAGCC | 9140 |
rs1050864 | snp | C/G | 0.0691948 | 0.172654 | utr-variant-5-prime, upstream-variant-2KB, missense | AP3S1, ATG12 | GRCh38.p7 | 5:115842024 | AGTGCCCACCCGGTC[C/G]GCCCGGCACAGCCAT | 9140 |
rs1058600 | snp | A/G | 0.48679 | 0.0801892 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115831016 | TGAGTAAACCCAGTA[A/G]CATCTTTTTGAGTGT | 9140 |
rs1059848 | snp | G/T | 0 | 0 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115828403 | TACATCTTGCTATTA[G/T]CAGAGTTGTGGGGAA | 9140 |
rs1968365 | snp | C/T | 0.180702 | 0.240204 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115830066 | gtaatggcacaatct[C/T]ggctcattgcaacct | 9140 |
rs3215095 | in-del | -/A | 0.49485 | 0.0504809 | intron-variant | ATG12 | GRCh38.p7 | 5:115831899 | TCTAAGAATAATAAA[-/A]GATTGAGTTTGATTT | 9140 |
rs3797570 | snp | C/T | 0.386694 | 0.20932 | intron-variant | ATG12 | GRCh38.p7 | 5:115834223 | GGTTGGTTCTCTGCT[C/T]CATCGAGTCTGCTGT | 9140 |
rs3834258 | in-del | -/T | | | intron-variant, upstream-variant-2KB | AP3S1, ATG12 | GRCh38.p7 | 5:115842991 | CAGTATTTACACGTT[-/T]AAAAGAGAAGTTCTA | 9140 |
rs3862064 | snp | A/T | | | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115828925 | CAGATTTTAACTTTT[A/T]AAA | 9140 |
rs4921031 | snp | C/T | 0.5 | 0 | intron-variant | ATG12 | GRCh38.p7 | 5:115832571 | AGCAGTAATTTCTTT[C/T]TTTTTTTTTTTTTTT | 9140 |
rs5870670 | in-del | -/T | 0.473634 | 0.111748 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115830280 | AATGGATGCTACAAA[-/T]TTCAACCAGTATTTT | 9140 |
rs6594906 | snp | C/T | 0.488118 | 0.0761554 | intron-variant | ATG12 | GRCh38.p7 | 5:115835738 | CAGGATCTATTAGCG[C/T]TTTTGAGGTTCTACT | 9140 |
rs6594907 | snp | C/G | 0.0543475 | 0.155628 | intron-variant | ATG12 | GRCh38.p7 | 5:115839571 | TGAGAAACCAGAGAA[C/G]GAAAATAATTTAATT | 9140 |
rs6594908 | snp | A/G | 0.234109 | 0.249494 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115839806 | TTATCCTCAACAAAT[A/G]ATGACAAGCACAAGG | 9140 |
rs6880889 | snp | A/T | 0.487305 | 0.0786545 | intron-variant | ATG12 | GRCh38.p7 | 5:115832199 | AACTATTACAATGAC[A/T]CTGTAAGATGTTAAA | 9140 |
rs7705442 | snp | A/C | 0.084728 | 0.187577 | intron-variant | ATG12 | GRCh38.p7 | 5:115832969 | TATTCAAGAAATTAC[A/C]TTATCGTAAAAATGT | 9140 |
rs7721432 | snp | G/T | | | intron-variant | ATG12 | GRCh38.p7 | 5:115835726 | TTACTTCCCGGTCAG[G/T]ATCTATTAGCGTTTT | 9140 |
rs7724740 | snp | C/G/T | 0.0667559 | 0.170068 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115841565 | CATCTTGCTTGGAGA[C/G/T]ACTCGAGAGCGGAAG | 9140 |
rs7726368 | snp | A/G | 0.472335 | 0.114312 | intron-variant | ATG12 | GRCh38.p7 | 5:115836429 | ATCTTTAGCAAAGAT[A/G]CAGCCTCTGCTCATT | 9140 |
rs7726813 | snp | C/T | 0 | 0 | downstream-variant-500B | ATG12 | GRCh38.p7 | 5:115827779 | GGAAAGGGGGAAAGG[C/T]ATGTTTTGTAGATGT | 9140 |
rs7731448 | snp | G/T | 0.0115144 | 0.0749975 | intron-variant, upstream-variant-2KB | AP3S1, ATG12 | GRCh38.p7 | 5:115843236 | TTCAATTTTGAAATT[G/T]TGCCAAGGCTAACAC | 9140 |
rs7735298 | snp | A/G | 0.0689305 | 0.172377 | intron-variant, upstream-variant-2KB | AP3S1, ATG12 | GRCh38.p7 | 5:115843543 | TCCTCCCGAATGGGA[A/G]AAAATGCCATTAACT | 9140 |
rs9326975 | snp | A/G | 0.211819 | 0.247067 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115830769 | caatccccacacctc[A/G]gccttccaaagtgct | 9140 |
rs9765736 | snp | A/G | 0.081446 | 0.184634 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115840391 | ccacctccgcctcgc[A/G]ggttcaagcgattct | 9140 |
rs10036657 | snp | A/G | 0.0810805 | 0.184299 | intron-variant | ATG12 | GRCh38.p7 | 5:115838262 | aaatatgagatgtgt[A/G]aaaattcacttaaaa | 9140 |
rs10052079 | snp | A/G | 0.0807149 | 0.183963 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115829683 | GAGTTTAAATTAAAA[A/G]TAAATTGTGTTGTAG | 9140 |
rs10054972 | snp | C/T | 0.0737376 | 0.17729 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115839672 | CAACTAGGGAAACAC[C/T]TACTCCCCAGGAAAC | 9140 |
rs10075816 | snp | A/G | 0.0810805 | 0.184299 | intron-variant | ATG12 | GRCh38.p7 | 5:115833907 | CAGCTTAGTTTATCA[A/G]TGTCTATGATGTGCT | 9140 |
rs10463672 | snp | A/G | 0.00199481 | 0.0315187 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115830786 | CCTTCCAAAGTGCTG[A/G]GATTACAGGTGTAAG | 9140 |
rs11555657 | snp | A/C | | | utr-variant-5-prime, upstream-variant-2KB, missense | AP3S1, ATG12 | GRCh38.p7 | 5:115841994 | GCTCGCGCGCCCGCC[A/C]CCGCCCTGGCCCCCA | 9140 |
rs11555658 | snp | A/C | | | utr-variant-5-prime, upstream-variant-2KB, missense | AP3S1, ATG12 | GRCh38.p7 | 5:115842008 | CCCCGCCCTGGCCCC[A/C]AGTGCCCACCCGGTC | 9140 |
rs11558586 | snp | C/T | | | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115830555 | AATGCCTTTTTTTTT[C/T]TTTTTTGAGATGGGG | 9140 |
rs11959754 | snp | C/G | 0.234401 | 0.249513 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115840193 | ACTTATAGTGCATCA[C/G]GTGGAAATGGGAGTC | 9140 |
rs12108983 | snp | C/T | | | intron-variant | ATG12 | GRCh38.p7 | 5:115839005 | gtgcatgcccgtaat[C/T]tcagctacttgggag | 9140 |
rs13155392 | snp | C/T | | | intron-variant | ATG12 | GRCh38.p7 | 5:115832568 | AAAAGCAGTAAtttc[C/T]ttctttttttttttt | 9140 |
rs17477896 | snp | C/T | 0.00318978 | 0.0398085 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115829322 | GGTTGACTAATGTCA[C/T]GTAATCTGAGAAATA | 9140 |
rs34128050 | in-del | -/G | | | intron-variant | ATG12 | GRCh38.p7 | 5:115838113 | TAGTTAAAATTAGAG[-/G]TAATTACCAGTGTAG | 9140 |
rs34310069 | in-del | -/A | | | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115829276 | CTCCTTCAACACCTA[-/A]GGCTTTCTCACTTTG | 9140 |
rs34344655 | in-del | -/A | | | intron-variant | ATG12 | GRCh38.p7 | 5:115836316 | AGACTCTTAACACAG[-/A]AACACAGTATCATTT | 9140 |
rs34509794 | in-del | -/G | 0.498568 | 0.0267188 | intron-variant, upstream-variant-2KB | AP3S1, ATG12 | GRCh38.p7 | 5:115842992 | AGAACTTCTCTTTTA[-/G]ACGTGTAAATACTGT | 9140 |
rs35179959 | snp | A/C | 0.361684 | 0.223667 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115830216 | TACATATTTAGCTAA[A/C]CTTAGATTTAATAAA | 9140 |
rs35189719 | in-del | -/A | 0 | 0 | intron-variant | ATG12 | GRCh38.p7 | 5:115839141 | AAAAAAAAAAAAAAA[-/A]TCTACAGTCAAAAAG | 9140 |
rs35310189 | in-del | -/T | | | intron-variant | ATG12 | GRCh38.p7 | 5:115832599 | TTTTTTTTTTTTTTT[-/T]ACCTCATAGAGAGTT | 9140 |
rs35337050 | in-del | -/A | 0.432797 | 0.170544 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115830121 | AAAAAAAAAAAAAAA[-/A]GTGCAACGTCCTATG | 9140 |
rs35614583 | in-del | -/C | | | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115831033 | CTGGGTTTACTCATC[-/C]AAGTGCTTTTGACAC | 9140 |
rs35903246 | snp | A/C | 0.444444 | 0.157135 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115830150 | AAAAAAAAAGTGCAA[A/C]GTCCTATGTATTCTT | 9140 |
rs36041748 | in-del | -/G | | | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115839825 | CAAGCACAAGGTAGG[-/G]AATAGTTAGAAACTA | 9140 |
rs56147874 | snp | A/C | 0.00597247 | 0.0543191 | intron-variant | ATG12 | GRCh38.p7 | 5:115836754 | ATTGTGATCTATTTG[A/C]AGATAAAGGTGTCTC | 9140 |
rs56997929 | snp | C/T | 0.101658 | 0.201233 | intron-variant | ATG12 | GRCh38.p7 | 5:115837983 | ATTTTTAAAATGCCT[C/T]TTATCTTAACAGGCA | 9140 |
rs57236644 | snp | A/G | 0.00636936 | 0.0560724 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115841297 | AGGTCTAGGACAGGC[A/G]CTCCTCTAAATTTTG | 9140 |
rs57633641 | snp | A/T | 0.386694 | 0.20932 | intron-variant | ATG12 | GRCh38.p7 | 5:115836766 | TTGCAGATAAAGGTG[A/T]CTCATACATATAATT | 9140 |
rs58119889 | snp | G/T | 0.0998734 | 0.199905 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115829237 | GAAGCAGAAACTGCA[G/T]GAAAAGAGATTTTTA | 9140 |
rs58536444 | in-del | -/ACT/ATGCACACT/T | 0.188631 | 0.242351 | intron-variant | ATG12 | GRCh38.p7 | 5:115839323 | CTAGAACACATGATC[-/ACT/ATGCACACT/T]TTTATCTTCCTACTA | 9140 |
rs60250199 | snp | A/G | 0.00874735 | 0.0655527 | intron-variant | ATG12 | GRCh38.p7 | 5:115839473 | TGGGGCTATCAATAA[A/G]TCGATTAATTCAATT | 9140 |
rs60556974 | in-del | -/GCATGCACA | 0.581958 | 0.120446 | intron-variant | ATG12 | GRCh38.p7 | 5:115839322 | TCTAGAACACATGAT[-/GCATGCACA]CTTTATCTTCCTACT | 9140 |
rs60831199 | snp | A/T | 0.0221141 | 0.102801 | downstream-variant-500B | ATG12 | GRCh38.p7 | 5:115828044 | TTAATATTAAATACG[A/T]AAACATGGGTATAGT | 9140 |
rs61582977 | in-del | -/CAC | 0.0221141 | 0.102801 | downstream-variant-500B | ATG12 | GRCh38.p7 | 5:115828013 | TCTAAAGATTTTACT[-/CAC]GTTTTATCTTTCATT | 9140 |
rs61735405 | snp | A/G | 3.29946e-05 | 0.00406155 | upstream-variant-2KB, missense, nc-transcript-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115841548 | GACTGCGGCTCCTCC[A/G]CCATCTTGCTTGGAG | 9140 |
rs61735406 | snp | C/T | 1.65154e-05 | 0.00287358 | upstream-variant-2KB, missense, nc-transcript-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115841470 | TCCGGGGTGGTTGTT[C/T]CTGGGGAGACATCCG | 9140 |
rs62371472 | snp | G/T | | | utr-variant-5-prime, upstream-variant-2KB, missense | AP3S1, ATG12 | GRCh38.p7 | 5:115841924 | CGGGAGCGCGCGCGG[G/T]CGCGTGCGGGAGGGG | 9140 |
rs68015035 | in-del | -/C | 0.5 | 0 | intron-variant | ATG12 | GRCh38.p7 | 5:115832571 | AGCAGTAATTTCTTT[-/C]TTTTTTTTTTTTTTT | 9140 |
rs72802721 | snp | A/T | 0.00676609 | 0.0577691 | intron-variant | ATG12 | GRCh38.p7 | 5:115831964 | AATATCCACACACGT[A/T]TATTAAGTTACCTAT | 9140 |
rs72802723 | snp | C/T | 0.0333695 | 0.124785 | intron-variant, upstream-variant-2KB | AP3S1, ATG12 | GRCh38.p7 | 5:115843762 | ATCGGTGTATACTAC[C/T]CGTATAGTGTATAAT | 9140 |
rs73265491 | snp | A/G | 0.180383 | 0.240111 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115828297 | AACAAACTGAAGTTT[A/G]TACTTACGTTTCAAG | 9140 |
rs73265494 | snp | A/G | 0.0788843 | 0.182262 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115828787 | TATTATGTGTGTGTG[A/G]GTACCAGATAAAAAC | 9140 |
rs73265501 | snp | C/T | 0.182933 | 0.240836 | intron-variant | ATG12 | GRCh38.p7 | 5:115836182 | TTAACCCTTATGAAA[C/T]TGTTTTCATAGGGTA | 9140 |
rs73267415 | snp | A/G | 0.230603 | 0.249246 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115840795 | GGTTGAGGATAGCTG[A/G]CTCAAGCAATGAAAT | 9140 |
rs74844425 | snp | C/T | 0.0323807 | 0.123052 | upstream-variant-2KB, missense, nc-transcript-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115841510 | CCCCTCCAGCAGCAA[C/T]TGAAGTAGGAAGCTG | 9140 |
rs74898404 | snp | A/G | 0.117188 | 0.211804 | intron-variant, upstream-variant-2KB | AP3S1, ATG12 | GRCh38.p7 | 5:115843166 | GGATTAATGTGAGGT[A/G]TAACTGTTGTGTGGT | 9140 |
rs74961482 | snp | A/G | 0.00601989 | 0.0545317 | utr-variant-5-prime, nc-transcript-variant, missense | AP3S1, ATG12 | GRCh38.p7 | 5:115841742 | AGTAACGCAACATGT[A/G]TTTCTCCGCGACTAC | 9140 |
rs74964767 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | ATG12 | GRCh38.p7 | 5:115832087 | TAGGCATGAATGAGC[A/T]TATGTATTTTAATCT | 9140 |
rs75857372 | snp | C/T | 0.48 | 0.0979796 | intron-variant | ATG12 | GRCh38.p7 | 5:115838854 | CACACTTTGGGAGGC[C/T]GAGGCAGGAGGATCA | 9140 |
rs76011164 | snp | A/G | 0.0325976 | 0.123435 | intron-variant | ATG12 | GRCh38.p7 | 5:115836158 | CATATTCACTACAGA[A/G]GATTTAATTTAACCC | 9140 |
rs76064846 | snp | A/G | 0.124444 | 0.216185 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115840771 | GGGAAACATTCTCAA[A/G]CAATAAAGGGTTGAG | 9140 |
rs76309511 | snp | C/G | 0.00835141 | 0.0640778 | intron-variant | ATG12 | GRCh38.p7 | 5:115837263 | CAAGAGATAAGGCAG[C/G]GCACAGTGGCACACT | 9140 |
rs76513614 | snp | G/T | 0.00261806 | 0.0360857 | intron-variant | ATG12 | GRCh38.p7 | 5:115832711 | TAATGGTATCCTGAT[G/T]AATCTGCATTTTTCT | 9140 |
rs76610165 | snp | C/T | 0.0425829 | 0.139564 | intron-variant, upstream-variant-2KB | AP3S1, ATG12 | GRCh38.p7 | 5:115843457 | GTGGTTTTAATTTAG[C/T]ATAACTTCAATACTA | 9140 |
rs76678915 | snp | C/T | 0.102014 | 0.201495 | downstream-variant-500B | ATG12 | GRCh38.p7 | 5:115827899 | CCATCTCAAAATGGA[C/T]AGGACATCCTTTTTG | 9140 |
rs76687485 | snp | A/G | 0.0170251 | 0.090679 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115829609 | TCTATTTAGTCACAA[A/G]GAAAATTTAAAATAT | 9140 |
rs76835298 | snp | C/T | 0.00993419 | 0.0697739 | intron-variant | ATG12 | GRCh38.p7 | 5:115837052 | ACTTCTGTAGTAATG[C/T]ACAGATATTGCAATG | 9140 |
rs76874481 | snp | C/T | 0.0197687 | 0.0974348 | intron-variant | ATG12 | GRCh38.p7 | 5:115835226 | TTTCGACTTGTCTTA[C/T]AGGTGTATATTTCTG | 9140 |
rs77784086 | snp | C/T | 0.00676609 | 0.0577691 | utr-variant-3-prime, nc-transcript-variant | ATG12 | GRCh38.p7 | 5:115831189 | TAATTAAGCCATGTG[C/T]ATTGTGTAAAATTAC | 9140 |
rs77812046 | snp | A/C | 0.180702 | 0.240204 | intron-variant | ATG12 | GRCh38.p7 | 5:115832563 | GAAAAAAAAGCAGTA[A/C]TTTCTTTCTTTTTTT | 9140 |
rs77954553 | snp | C/T | 0.00676609 | 0.0577691 | intron-variant | ATG12 | GRCh38.p7 | 5:115838571 | TAGTGACATTGTAGG[C/T]AATGATTACTTGGAT | 9140 |
rs78728416 | snp | A/C | 0.5 | 0 | intron-variant | ATG12 | GRCh38.p7 | 5:115837469 | AGAGCGAGACTGTCT[A/C]AAAAAAAAAAAATGA | 9140 |
rs78753214 | snp | A/T | 0.0391387 | 0.134304 | intron-variant | ATG12 | GRCh38.p7 | 5:115832237 | TCTTATGCTGTTTTC[A/T]CAATTTCTTGTAGGC | 9140 |
rs78864570 | in-del | -/AGGC | | | utr-variant-5-prime, upstream-variant-2KB, frameshift-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115841975 | GCGAGATTACGAGGC[-/AGGC]GAGGCTCGCGCGCCC | 9140 |
rs79857595 | snp | G/T | 0.5 | 0 | upstream-variant-2KB, intron-variant | AP3S1, ATG12 | GRCh38.p7 | 5:115840313 | TTTTTTTTTTTTTTT[G/T]TGAGGCGGAGTTTCG | 9140 |
rs111592881 | in-del | -/TT | 0.5 | 0 | intron-variant | ATG12 | GRCh38.p7 | 5:115837984 | TTTTTAAAATGCCTT[-/TT]ATCTTAACAGGCAGT | 9140 |