SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs14609 | snp | C/T | 0 | 0 | downstream-variant-500B, utr-variant-3-prime | HIC1, SMG6 | GRCh38.p7 | 17:2059971 | AGGGTCCCCGGCCTC[C/T]CCTTTAAGATTCTCT | 3090 |
rs1063317 | snp | C/G | 0 | 0 | missense | HIC1 | GRCh38.p7 | 17:2058806 | GCCGGGCCCGACGGC[C/G]GGACCATCGACCGTT | 3090 |
rs3215740 | in-del | -/T | 0.0707826 | 0.174302 | utr-variant-3-prime, downstream-variant-500B | HIC1, SMG6 | GRCh38.p7 | 17:2059389 | TGAGGAAGGAAGGGT[-/T]GGCCCTGGGGCTAGT | 3090 |
rs4455005 | snp | A/G | 0.491421 | 0.0649309 | upstream-variant-2KB, intron-variant | HIC1 | GRCh38.p7 | 17:2055242 | CATGCCCCCCAGGTG[A/G]GTCCTCGAGCCGGGG | 3090 |
rs4480845 | snp | C/T | 0.49121 | 0.0657086 | upstream-variant-2KB, intron-variant | HIC1 | GRCh38.p7 | 17:2055315 | GTCGGCCGCCTCGGG[C/T]GCATCTTCTGGCGCG | 3090 |
rs8065350 | snp | A/G | 0.496382 | 0.0423778 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054303 | GGGTGGGTTGGAGAA[A/G]AAGTCCACGCGGGAT | 3090 |
rs8065820 | snp | A/G | 0.0850919 | 0.187897 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054599 | TCAGTGCCTGGATAG[A/G]GCTGGGGACAAATCA | 3090 |
rs9674666 | snp | A/G | 0 | 0 | downstream-variant-500B, utr-variant-3-prime | HIC1, SMG6 | GRCh38.p7 | 17:2059907 | ACGGGACAGAAAGGA[A/G]AGCTGGGTCTCCCTC | 3090 |
rs9901806 | snp | C/T | 0.497829 | 0.0328757 | intron-variant | HIC1 | GRCh38.p7 | 17:2056528 | ACTCCAGAGGGCAGC[C/T]GGTCCTTCGCCGGTG | 3090 |
rs12953035 | snp | A/G | 0.0599851 | 0.162463 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2053430 | GGAGCACTTATGAGG[A/G]GCCTCTCCACCTCCC | 3090 |
rs28605802 | snp | C/T | | | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054027 | CCCCCCCCCCCCCGC[C/T]CCACGCCGTGTGTGG | 3090 |
rs34208532 | in-del | -/C | | | intron-variant | HIC1 | GRCh38.p7 | 17:2056420 | ACCCAGCCAGGTGCC[-/C]TGGGGCGTGCAGGCC | 3090 |
rs34263875 | in-del | -/C | | | frameshift-variant | HIC1 | GRCh38.p7 | 17:2058087 | CCGGCCTAGGGCCCC[-/C]TTTTGGAGGCGGCGG | 3090 |
rs34644105 | snp | A/T | | | utr-variant-3-prime, downstream-variant-500B | HIC1, SMG6 | GRCh38.p7 | 17:2059464 | ACCACCAGGTCTCCC[A/T]CTCCCGCGGTGCCCT | 3090 |
rs34843461 | in-del | -/G | | | downstream-variant-500B, utr-variant-3-prime | HIC1, SMG6 | GRCh38.p7 | 17:2060087 | CGCTTCTGGCATAGT[-/G]CCTGGGCCTCAGGGA | 3090 |
rs35265736 | snp | A/G | 0.5 | 0 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054054 | GTGGGCGGGGGTCAG[A/G]AGGTGCGGGGCGGAG | 3090 |
rs61453708 | snp | A/G | 0.0391387 | 0.134304 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2053968 | CTCGCGCTCCGCGGT[A/G]GAGGGAGGCGCAGCC | 3090 |
rs72634003 | snp | C/T | 0.264632 | 0.249571 | utr-variant-3-prime | HIC1 | GRCh38.p7 | 17:2059100 | AAAGGAGACCCCAGG[C/T]CCCTCCCGCCTCTTC | 3090 |
rs73976189 | snp | A/G | 0.0368353 | 0.130617 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2053383 | CCTGCTCGGTAGAAG[A/G]ACTCCTATTCATCCG | 3090 |
rs73976190 | snp | C/T | 0.0174175 | 0.0916809 | utr-variant-3-prime, downstream-variant-500B | HIC1, SMG6 | GRCh38.p7 | 17:2059482 | CCCGCGGTGCCCTCC[C/T]TTCCCTTCCCTGCGG | 3090 |
rs75796056 | snp | A/G | 0.0117836 | 0.0758481 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2058241 | GACCCGGCCCTACCC[A/G]TGCACCATCTGCGGG | 3090 |
rs77393586 | snp | C/T | 0.345266 | 0.231137 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2057680 | GCTGGGCCGGGAGCG[C/T]GGCTCCCCCAGCGAG | 3090 |
rs78577874 | snp | G/T | 0.0193772 | 0.0965046 | downstream-variant-500B, utr-variant-3-prime | HIC1, SMG6 | GRCh38.p7 | 17:2060004 | ACTCCAAAGAGCCCA[G/T]TCTTCTGAGACTCTA | 3090 |
rs111245437 | snp | C/G | | | utr-variant-3-prime | HIC1 | GRCh38.p7 | 17:2059288 | GGAGTGGGGAGGGGA[C/G]TGAGCCGGCCGGAGG | 3090 |
rs112491239 | snp | A/G | 0.0221141 | 0.102801 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2053852 | GGGCCAGAGGACAGC[A/G]CGGGGGGCGGCGAGC | 3090 |
rs112829941 | snp | G/T | 0.5 | 0 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054455 | CCGAAAGTTCAGGGC[G/T]GGCTGTGTGGGTAAC | 3090 |
rs112963849 | snp | A/C | 0.0722614 | 0.17581 | intron-variant | HIC1 | GRCh38.p7 | 17:2056532 | CAGAGGGCAGCCGGT[A/C]CTTCGCCGGTGCCCA | 3090 |
rs113249712 | snp | A/C | | | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054031 | CCCCCCCCCGCTCCA[A/C]GCCGTGTGTGGGCGG | 3090 |
rs113534225 | snp | A/G | 0.5 | 0 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2053879 | GAGCGCGGTTGCTAA[A/G]CTCTCCAAGGCCTCG | 3090 |
rs114468879 | snp | C/T | 0.0178098 | 0.0926698 | utr-variant-3-prime | HIC1 | GRCh38.p7 | 17:2059309 | CGGCCGGAGGGCCCC[C/T]CGCACCCCCGCTCCC | 3090 |
rs115113418 | snp | A/C/G/T | 0.00103515 | 0.022729 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2057920 | GGCCTATGGCGAGCC[A/C/G/T]GAGAGCTTCGGTGAC | 3090 |
rs116213695 | snp | C/T | 0.00835141 | 0.0640778 | utr-variant-3-prime, downstream-variant-500B | HIC1, SMG6 | GRCh38.p7 | 17:2059612 | TTGTATATTTCCTAC[C/T]TTGTACACAGGCTCT | 3090 |
rs139137692 | snp | A/G | 0.00636936 | 0.0560724 | downstream-variant-500B, utr-variant-3-prime | HIC1, SMG6 | GRCh38.p7 | 17:2059851 | GGTCAGGTATGTTTC[A/G]TAACTAAAAATTTAT | 3090 |
rs141284493 | snp | A/C | 0.00478085 | 0.0486577 | downstream-variant-500B, utr-variant-3-prime | HIC1, SMG6 | GRCh38.p7 | 17:2060027 | AGACTCTAGGGGACT[A/C]CTACCCCCAAACTAC | 3090 |
rs143666695 | snp | A/G | 0.0872718 | 0.189788 | upstream-variant-2KB, intron-variant | HIC1 | GRCh38.p7 | 17:2055618 | GAGCCCGGCCCGCCG[A/G]GACCGCAGGTAACGG | 3090 |
rs143756173 | snp | C/T | 0.000466072 | 0.0152584 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2056978 | AGAGGCGGCTGCGGC[C/T]GCGGCCGTGGCCCCG | 3090 |
rs145884851 | snp | C/T | 0.00119737 | 0.0244387 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054618 | GGGGACAAATCAGTT[C/T]ATGCCGCGCACACCG | 3090 |
rs146467608 | snp | A/C | 0.000399281 | 0.0141238 | utr-variant-3-prime, downstream-variant-500B | HIC1, SMG6 | GRCh38.p7 | 17:2059655 | TCCATTTTCTATACT[A/C]GAACCAAACAGCAAT | 3090 |
rs147657937 | snp | A/G | 0.0761021 | 0.179609 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2057083 | CAAGAAACGCCTCAA[A/G]CGCCACGGCAAGTAC | 3090 |
rs148411642 | in-del | -/GGCGGACTCAGGCAGCGGCGGGAATCA | 0.00438332 | 0.0466095 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2053635 | GGATCCAGAACATGG[-/GGCGGACTCAGGCAGCGGCGGGAATCA]GGCGGACTCGTTTGG | 3090 |
rs149000997 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054622 | ACAAATCAGTTTATG[C/T]CGCGCACACCGAATC | 3090 |
rs149823121 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054473 | CTGTGTGGGTAACAC[C/T]TCTGCCCAGGTTCCC | 3090 |
rs150345585 | snp | C/T | 0.000399281 | 0.0141238 | downstream-variant-500B, utr-variant-3-prime | HIC1, SMG6 | GRCh38.p7 | 17:2060114 | GGGAGGGCAGAGCTG[C/T]GCACCCATCCTCCAG | 3090 |
rs150364074 | in-del | -/G | | | frameshift-variant | HIC1 | GRCh38.p7 | 17:2057570 | GCGGCGGCAGCGGCA[-/G]GCCCGGGACCCGAGC | 3090 |
rs181008378 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054231 | ACCTGACCTTCACGT[A/G]GGGCGCGGGACCTTG | 3090 |
rs181806532 | snp | C/G | 0.0170251 | 0.090679 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2053525 | CCTTCCCTAGAGACC[C/G]GCAGCTCCGGAGGCC | 3090 |
rs182733310 | snp | C/G | 0.0981038 | 0.19881 | missense | HIC1 | GRCh38.p7 | 17:2057741 | GTCTCGCCCGGGGGG[C/G]CCCCGCTCGGCCTGG | 3090 |
rs183147222 | snp | C/T | 0.00795532 | 0.062565 | upstream-variant-2KB, intron-variant | HIC1 | GRCh38.p7 | 17:2055572 | CGGCGGGTGGGGCAT[C/T]GGCTAAGAGCTGCCA | 3090 |
rs183283346 | snp | C/T | 0.00318978 | 0.0398085 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054352 | GGGGGATTCTAGGGC[C/T]CCATGGTTACTTCTT | 3090 |
rs186481293 | snp | C/T | 0.0115144 | 0.0749975 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054313 | GAGAAGAAGTCCACG[C/T]GGGATTCTTCAAAAC | 3090 |
rs186499229 | snp | C/T | 0.00159617 | 0.0282053 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2053882 | CGCGGTTGCTAAGCT[C/T]TCCAAGGCCTCGGAG | 3090 |
rs186577674 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054723 | CGGGGAGTTCCAGGA[A/G]AGCTCGGCTACTCCT | 3090 |
rs187867664 | snp | A/G | | | upstream-variant-2KB, intron-variant | HIC1 | GRCh38.p7 | 17:2055942 | CAGGCCCGGGTCAGG[A/G]CCGCAGCCGGCTGTG | 3090 |
rs188260013 | snp | C/T | 0.031426 | 0.121348 | missense | HIC1 | GRCh38.p7 | 17:2058569 | GGCAAGCTCGACTTC[C/T]CCGAGGGCGTCTTTG | 3090 |
rs190559052 | snp | C/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054902 | TCCCAGGTGGGTACA[C/G]GTGGGAGGGCGAACC | 3090 |
rs191224968 | snp | C/G/T | 0.00169844 | 0.0290926 | upstream-variant-2KB, intron-variant | HIC1 | GRCh38.p7 | 17:2056283 | CGGCTCCCTTTCTCC[C/G/T]TACTTGGGTAAAGTT | 3090 |
rs191365801 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054341 | AACGGCGTACAGGGG[A/G]ATTCTAGGGCCCCAT | 3090 |
rs192543221 | snp | A/C | 0.00398564 | 0.0444627 | downstream-variant-500B, utr-variant-3-prime | HIC1, SMG6 | GRCh38.p7 | 17:2059996 | GACCCTGTACTCCAA[A/C]GAGCCCAGTCTTCTG | 3090 |
rs199689510 | snp | C/T | 0.00109186 | 0.0233396 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2057929 | CGAGCCCGAGAGCTT[C/T]GGTGACAACCTGTAC | 3090 |
rs199916264 | in-del | -/G | 0.0123036 | 0.0774623 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054876 | GGGACTCGCGTGTCC[-/G]GGGGTCGGGGTCCCA | 3090 |
rs199947545 | snp | A/G | 5.4745e-05 | 0.00523159 | missense | HIC1 | GRCh38.p7 | 17:2058491 | GTGGGGGGCGCGGCC[A/G]GCGCGGCCGGGGCGC | 3090 |
rs200238732 | snp | C/T | 0.00317642 | 0.0397255 | intron-variant | HIC1 | GRCh38.p7 | 17:2056392 | GAACAGTTTTCTTCT[C/T]GGAAGCCCCAGCACC | 3090 |
rs200496232 | snp | C/G | | | missense | HIC1 | GRCh38.p7 | 17:2058594 | TCTTTGCTGTGGCTC[C/G]CCTCACGGCCGAGCA | 3090 |
rs200736992 | snp | C/T | 0.00199792 | 0.0315431 | upstream-variant-2KB, intron-variant | HIC1 | GRCh38.p7 | 17:2056302 | TTGGGTAAAGTTCTC[C/T]GCCCTGAATGACTTT | 3090 |
rs200866682 | snp | C/T | 0.000308981 | 0.0124256 | missense | HIC1 | GRCh38.p7 | 17:2056800 | TCGTGGTGCAGAACG[C/T]CCTCTTCCGCGCGCA | 3090 |
rs201035745 | snp | C/T | 0.000798138 | 0.0199608 | intron-variant | HIC1 | GRCh38.p7 | 17:2056367 | TGTCTCCAAAAGGGT[C/T]ACTGCGCCTGAACAG | 3090 |
rs201380957 | snp | C/T | 0.000111319 | 0.00745971 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2058172 | CTGCGCGTCGTGCGA[C/T]AAGAGCTACAAGGAC | 3090 |
rs201398249 | snp | C/T | 0.0644053 | 0.167495 | utr-variant-3-prime | HIC1 | GRCh38.p7 | 17:2058838 | CTCTCCCACCTAGAG[C/T]GCCCCTCGCCAGCCC | 3090 |
rs201428525 | snp | A/C/T | 8.63497e-05 | 0.00657026 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2056783 | CTTGTGCGACGTGAT[A/C/T]ATCGTGGTGCAGAAC | 3090 |
rs201599490 | snp | A/G | 0.00486185 | 0.0490641 | missense | HIC1 | GRCh38.p7 | 17:2058059 | GAGGCGGCCGAAGTG[A/G]CCGCTGGGGCCGCCG | 3090 |
rs201780325 | snp | A/C | 0.000199541 | 0.00998653 | missense, intron-variant | HIC1 | GRCh38.p7 | 17:2056336 | TGAAGCGGACATTTT[A/C]CTTAAATCGGGTAAC | 3090 |
rs201813917 | snp | C/T | 0.012266 | 0.0773469 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2058106 | TGGAGGCGGCGGGGA[C/T]AAGGTCGCCGGGGCT | 3090 |
rs202115526 | snp | A/C/G | 0.000388823 | 0.0139377 | missense | HIC1 | GRCh38.p7 | 17:2058035 | GAGGAAGCGCTGTAC[A/C/G]GCAGGGCCGAGGCGG | 3090 |
rs202126573 | snp | A/G | 0.000399281 | 0.0141238 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2056735 | CTCCAGGCAGCTGCT[A/G]CTGCAGCTCAACAAC | 3090 |
rs202145567 | snp | A/C/G | 0.000616398 | 0.0175454 | upstream-variant-2KB, intron-variant | HIC1 | GRCh38.p7 | 17:2056285 | GCTCCCTTTCTCCCT[A/C/G]CTTGGGTAAAGTTCT | 3090 |
rs202155372 | snp | A/G | 0.00148246 | 0.0271852 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2058658 | GGCCGAGCTGCTGGC[A/G]CAGACCACGCACTTC | 3090 |
rs368176958 | snp | A/C/T | 3.32752e-05 | 0.00407881 | intron-variant | HIC1 | GRCh38.p7 | 17:2056372 | CCAAAAGGGTCACTG[A/C/T]GCCTGAACAGTTTTC | 3090 |
rs368978671 | snp | G/T | | | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2053483 | CTCAGGCCGCAGCAC[G/T]TCCCTCGGGCGAGAT | 3090 |
rs369179545 | snp | C/G | 0.000125706 | 0.00792699 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2058226 | GAAGACGCACTGGCT[C/G]ACCCGGCCCTACCCA | 3090 |
rs369296924 | snp | C/T | | | utr-variant-3-prime, downstream-variant-500B | HIC1, SMG6 | GRCh38.p7 | 17:2059517 | GGACCATATTTATTG[C/T]ATGCGCCCCGGCGGC | 3090 |
rs369608521 | snp | C/T | 0.000178153 | 0.00943634 | stop-gained, utr-variant-5-prime | HIC1 | GRCh38.p7 | 17:2056685 | GGAGAGTGTGCTGGG[C/T]AGACGATGCTGGACA | 3090 |
rs369634500 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054800 | CAGGACTTTTCCGAA[C/T]TGGGGCTGTGTGCCT | 3090 |
rs369849591 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB, intron-variant | HIC1 | GRCh38.p7 | 17:2056205 | CGGGCACCGCGCTCC[C/T]CTCCTCCGTATCACT | 3090 |
rs369923353 | snp | A/G | | | intron-variant | HIC1 | GRCh38.p7 | 17:2056596 | GAAGGGGAAGTGGAG[A/G]GGAGAAGTGCCGGGC | 3090 |
rs370020453 | snp | A/C/G | 7.51491e-05 | 0.00612943 | missense | HIC1 | GRCh38.p7 | 17:2058101 | CCTTTTGGAGGCGGC[A/C/G]GGGACAAGGTCGCCG | 3090 |
rs370184800 | snp | A/C/G/T | 0.00024193 | 0.010996 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2058427 | CCAGGTGTGCGGCGG[A/C/G/T]AAGTTCGCACAGCAA | 3090 |
rs370667357 | snp | C/T | | | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2055011 | CCTGCCGCGCAGAGC[C/T]CTGCGCGCCCGCGAG | 3090 |
rs370995439 | snp | C/T | 0.00755918 | 0.0610119 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2057833 | CTACAAGAGCAGCAG[C/T]GAGGAGACCGGTAGC | 3090 |
rs371173480 | snp | C/T | 0.000155778 | 0.00882411 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2058298 | GACGCGCCACATGCG[C/T]AGCCACCTGGGCCTC | 3090 |
rs371242587 | snp | G/T | 3.12017e-05 | 0.00394967 | missense | HIC1 | GRCh38.p7 | 17:2058022 | TCACGTGGAGGAGGA[G/T]GAAGCGCTGTACGGC | 3090 |
rs371253281 | snp | C/T | 0.00139885 | 0.0264096 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2058064 | GGCCGAAGTGGCCGC[C/T]GGGGCCGCCGGCCTA | 3090 |
rs371405663 | snp | C/G | 0.000182951 | 0.00956252 | intron-variant | HIC1 | GRCh38.p7 | 17:2056363 | TAACTGTCTCCAAAA[C/G]GGTCACTGCGCCTGA | 3090 |
rs371896054 | snp | A/C/G | 0.000449012 | 0.014977 | intron-variant | HIC1 | GRCh38.p7 | 17:2056365 | ACTGTCTCCAAAAGG[A/C/G]TCACTGCGCCTGAAC | 3090 |
rs371934522 | snp | G/T | 0.000686371 | 0.0185125 | missense | HIC1 | GRCh38.p7 | 17:2058078 | CTGGGGCCGCCGGCC[G/T]AGGGCCCCCTTTTGG | 3090 |
rs372133090 | snp | G/T | 0.000798403 | 0.0199641 | upstream-variant-2KB, intron-variant | HIC1 | GRCh38.p7 | 17:2055692 | GCGAGCAGCGGGCAG[G/T]GGAGCTCAGGGCTCG | 3090 |
rs372615114 | snp | C/T | | | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2053688 | TTGGACCGAAGCCTC[C/T]GCCAGGCACCGAAGC | 3090 |
rs372719892 | snp | C/T | 0.000130115 | 0.00806478 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2057029 | CGCCGTGCTGGCCGC[C/T]GCCAGCTACCTGCAG | 3090 |
rs373038310 | snp | C/T | 0.000153988 | 0.00877327 | synonymous-codon | HIC1 | GRCh38.p7 | 17:2058181 | GTGCGACAAGAGCTA[C/T]AAGGACCCGGCCACG | 3090 |
rs373187632 | in-del | -/G | | | upstream-variant-2KB | HIC1 | GRCh38.p7 | 17:2054379 | TCTTTGGACCCCCCG[-/G]AGGCGCTGTCCAGCC | 3090 |
rs373366887 | snp | A/G | | | missense | HIC1 | GRCh38.p7 | 17:2057813 | GCGGGCGGCGACGGC[A/G]ACGACTACAAGAGCA | 3090 |