SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs1557498 | snp | A/C | 0.029993 | 0.118731 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6887493 | aagtagctcactgtc[A/C]ccttgagcCATGATC | 105369632 |
rs1974437 | snp | C/G | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6887038 | aattagccaggcatg[C/G]cggcgtgtgcctgta | 105369632 |
rs1974438 | snp | C/G | 0.117188 | 0.211804 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6887153 | aactccagcctgggc[C/G]acagagcaagactct | 105369632 |
rs2269357 | snp | A/C | 0.4884 | 0.0752703 | upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6883871 | TCTTGCCAGACCAGG[A/C]TCTGTGGGCGCGGCC | 105369632 |
rs2269358 | snp | G/T | 0.46281 | 0.131194 | nc-transcript-variant, upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6883987 | CTACCCCCTGGGCTG[G/T]AGGGAGGCAGGGCAC | 105369632 |
rs2269359 | snp | A/G | 0.497041 | 0.0383476 | nc-transcript-variant, upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6884489 | AAAGCCAGAGTCATC[A/G]CTGACTAGGAGGAAA | 105369632 |
rs2269360 | snp | A/G | 0.345679 | 0.230967 | downstream-variant-500B, nc-transcript-variant, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6884712 | ACTACCCGCCCTCTC[A/G]GTCCCGCAGCCACGA | 105369632 |
rs2365570 | snp | A/G | 0 | 0 | nc-transcript-variant, upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6884248 | GGCTGGCATTTACAA[A/G]AAGGTGGCCCAGACC | 105369632 |
rs6489740 | snp | C/T | 0.487568 | 0.077855 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878817 | AGGTGAGCATATATT[C/T]GTTTGTGTAAAAATC | 105369632 |
rs6489741 | snp | C/T | 0.444444 | 0.157135 | upstream-variant-2KB | LOC105369632 | GRCh38.p7 | 12:6890350 | CAGGATGGTCTCGAA[C/T]TCCTGACCTCAGGTG | 105369632 |
rs7132019 | snp | C/T | 0.498676 | 0.0256975 | upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6882958 | ggaataaagtctctt[C/T]cctctgaattccttt | 105369632 |
rs7134129 | snp | C/G | 0.486111 | 0.0821678 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6888994 | TCACTGTGTTGGCCA[C/G]GCTGTCTTGAACTCC | 105369632 |
rs7138526 | snp | A/G | 0.48446 | 0.0867661 | upstream-variant-2KB | LOC105369632 | GRCh38.p7 | 12:6890100 | TGGTTTTTGTCTTTC[A/G]GTAATGTTTAGTGGC | 105369632 |
rs7294770 | snp | A/G | 0.46875 | 0.121031 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6877932 | acatggtgaaatccc[A/G]tctctactaaatata | 105369632 |
rs7295049 | snp | C/G | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878171 | actttgggaggccga[C/G]gcaggtggatcactt | 105369632 |
rs7311510 | snp | A/C | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878068 | ccactgcactccaac[A/C]tgggcgacagagtga | 105369632 |
rs7314788 | snp | C/T | 0.485561 | 0.0837315 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878008 | ccctcagcaggagaa[C/T]tgtttgaacccagga | 105369632 |
rs7316447 | snp | A/G | 0.459184 | 0.136902 | upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6883038 | gaggccaggagttgg[A/G]gactagcctaggtag | 105369632 |
rs7955412 | snp | C/G | 0.483657 | 0.0889059 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6889207 | GGGGAATAGCATTCA[C/G]AAGATCATGAGTTGC | 105369632 |
rs7960576 | snp | C/G | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6877895 | atcacctgaggtcag[C/G]agttcaagaccagcc | 105369632 |
rs7965106 | snp | A/C | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878745 | aacaagagcgaaact[A/C]catctcaaaaaaaaa | 105369632 |
rs7979695 | snp | A/C | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878707 | ggtgagctgagattg[A/C]gccattgcactccag | 105369632 |
rs9737885 | snp | A/G | 0.48 | 0.0979796 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6881157 | tttttgtatgctttt[A/G]taaagacagggtttc | 105369632 |
rs9737890 | snp | A/T | 0.487369 | 0.07846 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6881289 | tcCTTTTAAAAAAAA[A/T]GTCCCCTCCCACCAC | 105369632 |
rs9739707 | snp | C/T | 0.46875 | 0.121031 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6881152 | taatttttttgtatg[C/T]ttttataaagacagg | 105369632 |
rs10599968 | in-del | -/A | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6877961 | TACAAAAAAAAAAAA[-/A]TTAGCCAGGCGTGGT | 105369632 |
rs10849530 | snp | A/T | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878899 | ATATATATATATATA[A/T]AAAATGATGTACAAA | 105369632 |
rs10849531 | snp | A/G | 0.494699 | 0.051208 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6881384 | TGAACTTTTACATAC[A/G]TATACACTTGGGTGA | 105369632 |
rs11064440 | snp | C/T | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6876385 | CGCGATGGCTCACAC[C/T]TGTAATCCCAGCACT | 105369632 |
rs11064441 | snp | G/T | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6876386 | GCGATGGCTCACACC[G/T]GTAATCCCAGCACTT | 105369632 |
rs11064442 | snp | A/T | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878901 | ATATATATATATATA[A/T]AATGATGTACAAAAT | 105369632 |
rs11064443 | snp | A/C | 0.160459 | 0.233415 | upstream-variant-2KB, intron-variant | RPL13P5, LOC105369632 | GRCh38.p7 | 12:6882089 | TGATGATACATTCCC[A/C]AGGGTAGCTCCTATT | 105369632 |
rs11064444 | snp | C/T | 0.46875 | 0.121031 | downstream-variant-500B, nc-transcript-variant, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6884725 | TCAGTCCCGCAGCCA[C/T]GAGGAGGACGCTGCC | 105369632 |
rs11064445 | snp | A/G | 0.0883596 | 0.190715 | nc-transcript-variant, intron-variant | DSTNP2, LOC105369632 | GRCh38.p7 | 12:6885179 | AAACAAAAGAATCCA[A/G]AAGAATTGATGTTTT | 105369632 |
rs11064446 | snp | C/G | | | nc-transcript-variant, intron-variant | DSTNP2, LOC105369632 | GRCh38.p7 | 12:6885770 | AAGCAAATATATTTA[C/G]GCCAGGGTCTCACTG | 105369632 |
rs11064453 | snp | G/T | 0.206111 | 0.246117 | | | GRCh38.p7 | 12:6891487 | AGGGCGGAAACTAGG[G/T]CCCGAGGCTGAAAGT | 105369632 |
rs11287596 | in-del | -/A | 0 | 0 | upstream-variant-2KB, downstream-variant-500B | SPSB2, LOC105369632 | GRCh38.p7 | 12:6875356 | TTTGAGACGGAGTCT[-/A]AGCTCTGATGCCTAG | 105369632 |
rs11377126 | in-del | -/G | 0 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6887699 | TGGCCAGGCGCGGTG[-/G]CTCACGCCTGTAATC | 105369632 |
rs11394173 | in-del | -/G | 0 | 0 | upstream-variant-2KB | LOC105369632 | GRCh38.p7 | 12:6889479 | TAGCCGGGATTATAG[-/G]TGCCCATCACCATGC | 105369632 |
rs11402311 | in-del | -/G | 0 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6886902 | ATAGCCAGGCGCGGT[-/G]GCTCACGCCTGTAGT | 105369632 |
rs11831556 | snp | A/G | 0.5 | 0 | upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6883489 | TGCCACTGCACTACA[A/G]ACTGGGCAACAGAGT | 105369632 |
rs11833856 | snp | A/G | 0.46875 | 0.121031 | | | GRCh38.p7 | 12:6891856 | GCTACTCAGGAGGCT[A/G]GGGCAGGAGGATTGC | 105369632 |
rs11836014 | snp | G/T | 0.375 | 0.216506 | | | GRCh38.p7 | 12:6892075 | TAGTTTTCCTTTTTT[G/T]TTTTTTGAGACAGTC | 105369632 |
rs12300574 | snp | C/T | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6880671 | gagactacaggcatg[C/T]gccacaatgcctttt | 105369632 |
rs12304851 | snp | A/G | 0.408163 | 0.193609 | upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6883808 | CACCAACGGAGCCAT[A/G]GAGGGACCTCGGCCC | 105369632 |
rs12310313 | snp | A/G | 0 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6888599 | AAACCTTCATTCAGC[A/G]CCTTTATGAGCACAT | 105369632 |
rs12311741 | snp | C/T | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6877087 | agagcaagactccat[C/T]tcaaaaaaaaaaaaa | 105369632 |
rs12814489 | snp | G/T | 0 | 0 | upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6883800 | AGCATTGTCACCAAC[G/T]GAGCCATAGAGGGAC | 105369632 |
rs12814722 | snp | G/T | 0 | 0 | upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6883909 | AGGACTAGGGCGGTG[G/T]CAGTGGCCAGGTGAG | 105369632 |
rs12817264 | snp | C/G | 0.46875 | 0.121031 | nc-transcript-variant, upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6884494 | CAGAGTCATCGCTGA[C/G]TAGGAGGAAAACTTC | 105369632 |
rs12822589 | snp | A/C | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6876442 | ctgaggtttggagtt[A/C]gagaccagcctggcc | 105369632 |
rs12831467 | snp | A/C | 0.375 | 0.216506 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6886522 | cagaggtccctgcgg[A/C]cttccgcagtgtttg | 105369632 |
rs16932987 | snp | C/G/T | | | nc-transcript-variant, intron-variant | DSTNP2, LOC105369632 | GRCh38.p7 | 12:6885261 | CTCCAAGGATGCAAT[C/G/T]AAAAAGAAATTTCAA | 105369632 |
rs17790774 | snp | G/T | 0.0277723 | 0.11452 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6889249 | GGCCTTGTGTTTCTA[G/T]TTTGGAAATATTAAA | 105369632 |
rs34043489 | in-del | -/C | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6880730 | GTCTCAGTGTACTCC[-/C]AGGCTGGAGTGCAGT | 105369632 |
rs34086804 | in-del | -/A | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6879960 | AAAAATACATAAAAA[-/A]TTAGCCAGGCCTACT | 105369632 |
rs34759893 | in-del | -/G | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6886936 | GCACTTTGGGAGGCG[-/G]AAAGTGGGTGGATTG | 105369632 |
rs34853861 | in-del | -/A/ACA/AGAG/GG | 0 | 0 | downstream-variant-500B, upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6884616 | TAAAAAAAAAAAAAA[-/A/ACA/AGAG/GG]CGGGTAGGCTCGAGC | 105369632 |
rs35112820 | in-del | -/T | | | | | GRCh38.p7 | 12:6892082 | CCTTTTTTGTTTTTT[-/T]GAGACAGTCTCATTC | 105369632 |
rs35146755 | in-del | -/AG | | | downstream-variant-500B, upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6884617 | AAAAAAAAAAAAAAC[-/AG]GGGTAGGCTCGAGCC | 105369632 |
rs35266405 | snp | A/C | 0 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6876727 | ACAGCCTGAAATAGG[A/C]CAGTAGAAATAAGGA | 105369632 |
rs35300852 | in-del | -/A | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6887260 | AATGCAAAAAAAAAA[-/A]TTATTCAGACATTTT | 105369632 |
rs35308991 | in-del | -/A | 0.375 | 0.216506 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6880246 | TTTTACTTAAAAATT[-/A]AAAAAAAAAAAAAAT | 105369632 |
rs35867240 | snp | A/G | 0.04875 | 0.148319 | upstream-variant-2KB | LOC105369632 | GRCh38.p7 | 12:6890509 | CTTCACAAATTTTTT[A/G]AATCTTGATTGAATG | 105369632 |
rs35909908 | snp | A/C | 0 | 0 | downstream-variant-500B | LOC105369632 | GRCh38.p7 | 12:6875719 | TGTAGAAGATATTCC[A/C]GACAGAAGAGTCCGC | 105369632 |
rs55833876 | in-del | -/AA | 0 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6877111 | AAAAAAAAAAAAAAA[-/AA]GAGAAAGGGAAGTTT | 105369632 |
rs56027063 | in-del | -/T | 0 | 0 | upstream-variant-2KB | LOC105369632 | GRCh38.p7 | 12:6890059 | ATAGGCCTGAGCCAC[-/T]TGCACCTGGCCCAGA | 105369632 |
rs56242562 | snp | A/T | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878427 | TGGCGACAGAGCAAG[A/T]CTCCGTCTCAAAAAA | 105369632 |
rs56407810 | in-del | -/A | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878466 | ATAAAATAAAAATAA[-/A]TTGAGGACCACAAGA | 105369632 |
rs56673052 | snp | A/G | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6881272 | TGAGCCACTGCGATC[A/G]GTCCTTTTAAAAAAA | 105369632 |
rs60073448 | in-del | -/TATATA | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878895 | ATATATATATATATA[-/TATATA]AAATGATGTACAAAA | 105369632 |
rs60251849 | in-del | -/TATA | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878897 | ATATATATATATATA[-/TATA]AAATGATGTACAAAA | 105369632 |
rs61730383 | snp | A/G | 0.101403 | 0.201045 | nc-transcript-variant, intron-variant | DSTNP2, LOC105369632 | GRCh38.p7 | 12:6885258 | AAGCTCCAAGGATGC[A/G]ATCAAAAAGAAATTT | 105369632 |
rs61750890 | snp | G/T | 0.104938 | 0.20361 | nc-transcript-variant, intron-variant | DSTNP2, LOC105369632 | GRCh38.p7 | 12:6885141 | AAAAGATTGTTGCTA[G/T]GCTTTGTATGATGCA | 105369632 |
rs66536936 | in-del | -/A | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6877949 | CTCTACTAAATATAC[-/A]AAAAAAAAAAAATTA | 105369632 |
rs66933898 | in-del | -/G/TT | 0.5 | 0 | | | GRCh38.p7 | 12:6892075 | TAGTTTTCCTTTTTT[-/G/TT]TTTTTTGAGACAGTC | 105369632 |
rs68038064 | snp | C/T | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6880543 | GGTGACAGAGCGACA[C/T]TCCATCTCAAAAAAA | 105369632 |
rs68189435 | snp | A/G | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6888102 | TTTGTTTGTTTGTTT[A/G]TTTATTTATTTATTT | 105369632 |
rs71067144 | in-del | -/G | 0 | 0 | nc-transcript-variant, intron-variant | DSTNP2, LOC105369632 | GRCh38.p7 | 12:6885492 | GTAGCTGGGATTATA[-/G]GCGTGCGCCACCACA | 105369632 |
rs71416247 | snp | C/T | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6886577 | GAGTGGTGATGACTC[C/T]TAAGGAGCATGCTGC | 105369632 |
rs71450171 | in-del | -/AA | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6877089 | GCAAGACTCCATCTC[-/AA]AAAAAAAAAAAAAAA | 105369632 |
rs71450172 | in-del | -/A | 0.5 | 0 | upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6882888 | AGCTTTATTTTTTGG[-/A]AAAAAAAAAAAAATT | 105369632 |
rs71574759 | snp | C/T | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6886586 | TGCTTGAAGGCAGCA[C/T]GCTCCTTAAGAGTCA | 105369632 |
rs73042230 | snp | A/G | | | nc-transcript-variant, upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6884456 | CCAGAAATGCCCATC[A/G]GCAATGTCTACAAGG | 105369632 |
rs74350835 | snp | C/G | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878182 | CCGAGGCAGGTGGAT[C/G]ACTTGAGGTCAGGAG | 105369632 |
rs74535607 | snp | G/T | 0.299444 | 0.245062 | upstream-variant-2KB | LOC105369632 | GRCh38.p7 | 12:6890757 | AGGGCTCAGAACTGG[G/T]ACCAAGAGAACATAG | 105369632 |
rs74835578 | snp | A/T | 0.5 | 0 | upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6883365 | CGGCCAATAAAAAAA[A/T]TTTTTAATTAGTTGG | 105369632 |
rs74995846 | snp | A/C | 0.0327778 | 0.123752 | nc-transcript-variant, upstream-variant-2KB, intron-variant | RPL13P5, DSTNP2, LOC105369632 | GRCh38.p7 | 12:6884577 | ATAGGCACAAAGAGC[A/C]AAGGAAGCTGTAGAA | 105369632 |
rs75044169 | snp | A/C | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6888865 | AATCTCTGCTCACTG[A/C]AAACTCTCCCTCCCA | 105369632 |
rs75283847 | snp | A/T | 0.5 | 0 | upstream-variant-2KB | LOC105369632 | GRCh38.p7 | 12:6890545 | ATTTTTTGAGGCCGT[A/T]TTTTTTTTTTTTCCA | 105369632 |
rs75343557 | snp | A/G | 0.173299 | 0.237943 | upstream-variant-2KB | LOC105369632 | GRCh38.p7 | 12:6889751 | GCTTCTAAAATCATT[A/G]TGCCATCCTTGGCTG | 105369632 |
rs75381716 | snp | A/C | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6887174 | GCAAGACTCTGTCTC[A/C]AAAAAAAAAAAGAAA | 105369632 |
rs75530845 | snp | A/T | 0.5 | 0 | upstream-variant-2KB | LOC105369632 | GRCh38.p7 | 12:6890546 | TTTTTTGAGGCCGTA[A/T]TTTTTTTTTTTCCAC | 105369632 |
rs75535814 | snp | C/T | 0.0649672 | 0.168116 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6887519 | TGATCAAGGGATCCT[C/T]GGCTTCAGTCCCTCA | 105369632 |
rs75861577 | snp | C/T | | | upstream-variant-2KB, intron-variant | RPL13P5, LOC105369632 | GRCh38.p7 | 12:6882566 | GGTTCAAGCAATTCT[C/T]GTGCTTCAACCTCCT | 105369632 |
rs75930696 | snp | A/G | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6879114 | AAGACTATAAATAGC[A/G]TTCAGTGTATACTGC | 105369632 |
rs76205610 | snp | C/T | 0.243194 | 0.249907 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6876229 | AACTCCTGAGTCAAG[C/T]GATCCTCCTGCCTCA | 105369632 |
rs76891340 | in-del | -/AT | | | intron-variant | LOC105369632 | GRCh38.p7 | 12:6880986 | TTTTTATATATATAT[-/AT]TTTGAGACAAGGTCT | 105369632 |
rs77378695 | snp | C/T | 0.299444 | 0.245062 | upstream-variant-2KB | LOC105369632 | GRCh38.p7 | 12:6891145 | CGCCCAGCGCCAATG[C/T]CCCGCCCCGCGCAGC | 105369632 |
rs77599845 | snp | C/T | 0.5 | 0 | intron-variant | LOC105369632 | GRCh38.p7 | 12:6878168 | AGCACTTTGGGAGGC[C/T]GAGGCAGGTGGATCA | 105369632 |