| SNP - dbSNP |
| dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
|---|
| rs154419 | snp | C/T | 0.5 | 0 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69584279 | cccaagtagctggga[C/T]tacaggcgtgtgcca | 728340 |
| rs154424 | snp | A/T | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69568454 | ATAAGCACATATAGA[A/T]TTTAAATAAAAACAT | 728340 |
| rs162955 | snp | C/T | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69580133 | tgctgggattacagg[C/T]gtgagccaccgagcc | 728340 |
| rs257509 | snp | A/G | 0.5 | 0 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69581508 | Cataagatctaaaat[A/G]tattgaatgtttaca | 728340 |
| rs335259 | snp | G/T | 0.4422 | 0.159872 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69566476 | TTTTTCTAATTCTGA[G/T]TAAGAATGTCATAAC | 728340 |
| rs473480 | snp | A/C | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69584939 | ttttttttgagacgg[A/C]ttctcactctgttgc | 728340 |
| rs483294 | snp | G/T | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69585000 | GAATGTAGCATAATT[G/T]AGTTATAAGACATAC | 728340 |
| rs2243524 | snp | A/G | 0.488786 | 0.0740357 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69560852 | AACCTCCACCTCCCG[A/G]GTTCAAGCGATTCTC | 728340 |
| rs2244243 | snp | C/G | 0.00279162 | 0.0372561 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561058 | acccacctggccTCG[C/G]TGATATTTTTAAGAA | 728340 |
| rs2244641 | snp | G/T | 0.5 | 0 | downstream-variant-500B, upstream-variant-2KB | OCLN, GTF2H2C | GRCh38.p7 | 5:69558213 | AGCCCCAAGTTTCTT[G/T]CATATGTTTGTTATC | 728340 |
| rs2312817 | snp | A/T | 0.0141837 | 0.08301 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561086 | GAAGAAAATGGACTG[A/T]TGGGAAGTGACAGGC | 728340 |
| rs2312818 | snp | C/T | 0.347401 | 0.230246 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561087 | AAGAAAATGGACTGT[C/T]GGGAAGTGACAGGCC | 728340 |
| rs2438094 | snp | G/T | | | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563220 | CTGGTTTTTTTTTTT[G/T]TTTTTTTTTTTTGAG | 728340 |
| rs2561155 | snp | A/G | 0.5 | 0 | | | GRCh38.p7 | 5:69573382 | agcctggctaacatg[A/G]tgaaaccccatctgt | 728340 |
| rs2568327 | snp | A/C | 0.000798403 | 0.0199641 | | | GRCh38.p7 | 5:69561701 | GTTCACTACTGCACT[A/C]CAGACTGGGTGACAG | 728340 |
| rs2576897 | snp | A/C | | | | | GRCh38.p7 | 5:69573599 | CAGTGAGAGCTGAGA[A/C]GATAACAATGAAAAT | 728340 |
| rs2576910 | snp | C/T | 0.5 | 0 | | | GRCh38.p7 | 5:69561746 | TCTCCTGGGCTCAAG[C/T]CATCCTCCCACTTTT | 728340 |
| rs2666592 | snp | G/T | 0.5 | 0 | upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69559939 | TGAGGAGCTCGATCT[G/T]GTCTTTCTACTTCTA | 728340 |
| rs2666616 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69573638 | GCAGCAATTTTATCA[A/G]TTAGTTATAGCTTTC | 728340 |
| rs2666617 | snp | A/T | 0 | 0 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69573196 | tctgtctcgaaaaaa[A/T]aTATATATATACgtg | 728340 |
| rs3097196 | snp | A/C/G | 0.000399281 | 0.0141238 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561934 | TAAACTCAAATTCTT[A/C/G]GCAGGGCACACAGTG | 728340 |
| rs3106290 | snp | C/T | 0.5 | 0 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69580808 | TCTTTGCACAGTTTG[C/T]ATTACACAGCTTTGA | 728340 |
| rs4081993 | snp | C/T | 0.197393 | 0.244402 | utr-variant-5-prime, intron-variant | GTF2H2C | GRCh38.p7 | 5:69560289 | AGAGGTGGGGCAGGC[C/T]GTCTGACTAGCTAGG | 728340 |
| rs4563579 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69560502 | GATGGTTCAGGGTTC[A/G]AGTTTGTGACCCGCT | 728340 |
| rs5012305 | snp | C/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69584902 | tagtgagttgagatt[C/G]tgccactgcactcca | 728340 |
| rs9763784 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69573184 | cacacacacacacac[A/G]TATATATATAttttt | 728340 |
| rs11261467 | snp | A/C | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69581264 | TATACTTTTTTCAAT[A/C]TAAATGTAATAAATT | 728340 |
| rs11491467 | snp | A/G | | | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69565703 | CCTATCCCACGCCTA[A/G]GTTACAAACCTGTAC | 728340 |
| rs12657552 | snp | C/G | 0.191461 | 0.24305 | upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69559286 | agtcctcgctgggaa[C/G]acagttaagccatga | 728340 |
| rs28635515 | snp | C/T | 0.0671094 | 0.170444 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69572428 | GATTTTATTTAAAGA[C/T]CTTATTTCTATTTTA | 728340 |
| rs58303754 | snp | G/T | 0.473174 | 0.112665 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69566535 | GTTGTATTTTTTTTT[G/T]TGGGGGGGGATAGTA | 728340 |
| rs59898528 | snp | G/T | 0.261961 | 0.249714 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69566538 | GTATTTTTTTTTGTG[G/T]GGGGGGATAGTATAT | 728340 |
| rs62371758 | snp | C/G | | | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69560908 | AACTACAGGCGCGTG[C/G]CACCACGCCCAGCTA | 728340 |
| rs62374260 | snp | A/G | 0.487621 | 0.0776941 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563645 | CGTCACCCTGGTAGT[A/G]AACATAGTACCTGAT | 728340 |
| rs62374261 | snp | G/T | 0 | 0 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69564251 | AGCATCTAAGTTGAT[G/T]TGATGTCTTTGCTAT | 728340 |
| rs62374263 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69566746 | ATATGTTAAAAATAC[A/G]TGCATAGAATATGTA | 728340 |
| rs62374264 | snp | A/G | 0 | 0 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69568805 | CGGCCTTATCCTGAA[A/G]ATATTAAAATACAGT | 728340 |
| rs62374265 | snp | C/T | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69579116 | AACTGGTGGTATATA[C/T]ATAATTTATTTAATA | 728340 |
| rs62374266 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69589187 | AACACAGTATTTCCA[A/G]GAAAAAAAAAATGTT | 728340 |
| rs62374267 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69589489 | AGTGCTTCTGGCTGG[A/G]CATGGTGGCTCATGC | 728340 |
| rs62374268 | snp | C/T | 0 | 0 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69591317 | GTTGACCAGCTGGTC[C/T]TGAACTCCTGGGCTC | 728340 |
| rs62374269 | snp | A/G | | | utr-variant-3-prime, downstream-variant-500B | GTF2H2C | GRCh38.p7 | 5:69592888 | ACTCCACCCTAGAGT[A/G]AGACTCCCTCTCAAA | 728340 |
| rs71624203 | snp | A/G | 0.5 | 0 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69568408 | TAAATTGAGTTCTGC[A/G]TAGTGGTAAATAATA | 728340 |
| rs75331578 | snp | C/T | 0.5 | 0 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563275 | GCTGGAGTGAAGTGG[C/T]GTGACCTTGGCTCAT | 728340 |
| rs75950812 | snp | C/T | 0.5 | 0 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563201 | GTCAGCCATCATACC[C/T]GGCCTGGTTTTTTTT | 728340 |
| rs77421214 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69567723 | TCTTTTTTTGTTTAA[A/G]CAGTTGTTGGAATAC | 728340 |
| rs77684880 | snp | A/G | 0.115788 | 0.21092 | utr-variant-5-prime, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69560225 | AGTTTCCGGCTGAGA[A/G]TCCTTCTAGCGGCGC | 728340 |
| rs78119549 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69589843 | GATGACCTTGTATAT[A/G]CTGTGGAATTTTTTT | 728340 |
| rs79086191 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69578686 | TTGTTGTACCTAATT[A/G]GAGTGTATTTTATCT | 728340 |
| rs79323935 | snp | C/T | 0.5 | 0 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69568553 | CCGAAATTGTGCCAC[C/T]GCACTCTAGCCTGGC | 728340 |
| rs79630321 | snp | C/T | 0.5 | 0 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563155 | CAAGTGATCACCTGC[C/T]TTAGTCTCCCAAAGT | 728340 |
| rs79758696 | snp | C/T | 0.5 | 0 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69587725 | ATGACTTCTAAATGA[C/T]TTAAGTGTGAAAAGC | 728340 |
| rs80053628 | snp | C/T | | | upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69559907 | TTCTGTGGCCAGGGT[C/T]CTTCATCCCAACCTT | 728340 |
| rs80226356 | snp | A/G | 0.277778 | 0.248452 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69569013 | TTTTTATTTGCTTTG[A/G]TATATATGCTGTTAC | 728340 |
| rs111558613 | snp | C/T | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69571675 | CTAAAAACATTTTAT[C/T]GTTTGTTTTTTGAGA | 728340 |
| rs111718706 | snp | A/G | | | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561584 | AAAAGAATTCCTTTG[A/G]TATGGTCAGCCAAAA | 728340 |
| rs111821439 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69572009 | TAAACTCACCATGAA[A/G]AGGACAATGTACATA | 728340 |
| rs112714033 | snp | G/T | | | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69560798 | GAGTCTCGCCCTGTC[G/T]CCAGGCTGGAGTGCA | 728340 |
| rs113076805 | snp | C/T | 0 | 0 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69582941 | CTATTGCTCCTAGGC[C/T]GCACACCTGTACAGC | 728340 |
| rs113108396 | snp | A/G | 0.25214 | 0.249991 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69582457 | CTTGAAAATATCAGT[A/G]ATAATGTTTTTACAT | 728340 |
| rs117044031 | snp | G/T | 0.00914312 | 0.0669923 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561937 | ACTGTGCCCTGCGAA[G/T]AATTTGAGTTTAAAA | 728340 |
| rs118025410 | snp | C/T | 0.0718919 | 0.175435 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563200 | TGTCAGCCATCATAC[C/T]CGGCCTGGTTTTTTT | 728340 |
| rs139019995 | snp | A/T | 0.00159617 | 0.0282053 | upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69559643 | AAACTTCTCCCCTTC[A/T]GTGCTTAGTTTTTCT | 728340 |
| rs139634805 | snp | A/T | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69572887 | TATTAACATTTATTA[A/T]TTTATTTTGAAAGTA | 728340 |
| rs140270499 | snp | G/T | 0.00619465 | 0.0553078 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69566250 | AAAGGTAAAATATAT[G/T]CATTTTAAGCCTTTC | 728340 |
| rs141028031 | in-del | -/TGTT | 0.170733 | 0.237101 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563522 | CCTGGCCCTGGCCTG[-/TGTT]TGTTTGTTTTGTTTT | 728340 |
| rs143661971 | snp | G/T | 0.0607341 | 0.163335 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563221 | TGGTTTTTTTTTTTT[G/T]TTTTTTTTTTTGAGA | 728340 |
| rs144783267 | snp | A/C | 0.00636936 | 0.0560724 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561216 | GGGACCTTAATACCT[A/C]CTGTCCAGTCGGATT | 728340 |
| rs145143545 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69559499 | GAGACGGAATTCACT[A/G]TGTTGGCCAGGCTGG | 728340 |
| rs150543998 | snp | A/G | 0.0217236 | 0.101931 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69564083 | GTTGGGCCTCTGTTC[A/G]TGTTAATTCGATGAG | 728340 |
| rs181051676 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69560051 | GCTGGAACACCGTCC[C/T]TTTCCGCGCCCCAAC | 728340 |
| rs181098612 | snp | A/C | 0.000798403 | 0.0199641 | upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69559235 | AAGAGCTTTTCCCCT[A/C]GGTATCAGCAGGGTT | 728340 |
| rs181916292 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561695 | CTCACTCTGTCACCC[A/C]GTCTGGAGTGCAGTA | 728340 |
| rs182708393 | snp | A/C | 0.081446 | 0.184634 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69573066 | CATATTATATATATA[A/C]TTTATTATACATATA | 728340 |
| rs183101377 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563142 | AAACTCCTGACCTCA[A/G]GTGATCACCTGCTTT | 728340 |
| rs184819182 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69559497 | TAGAGACGGAATTCA[C/T]TATGTTGGCCAGGCT | 728340 |
| rs185755201 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561955 | TTTGAGTTTAAAAAC[A/G]TTGAGAACGTTATGC | 728340 |
| rs186529438 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563157 | AGTGATCACCTGCTT[C/T]AGTCTCCCAAAGTGC | 728340 |
| rs186855157 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69573133 | AGTTAAAGCTTATAT[A/G]TCTATTATATATACA | 728340 |
| rs187271448 | snp | A/C/G | 0.000399281 | 0.0141238 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69560782 | TTTTTTCTTCGAGAC[A/C/G]GAGTCTCGCCCTGTC | 728340 |
| rs189412833 | snp | A/C | 0.000399281 | 0.0141238 | upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69559543 | CCCTCCGATGATCCA[A/C]CCCCGCTCGGCCTCC | 728340 |
| rs190506315 | snp | C/T | 0.0471551 | 0.14613 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69562274 | AGTGAGCCGAGATCG[C/T]GCCATTGCACTCCAG | 728340 |
| rs190952267 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69563539 | TTTGTTTGTTTTGTT[C/T]TGTTTTCAACTTTTA | 728340 |
| rs192438152 | snp | C/T | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69573145 | TATATCTATTATATA[C/T]ACACACACACACACA | 728340 |
| rs199618050 | in-del | -/T | 0.401604 | 0.198787 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69566525 | AATTGGAAAGTTGTA[-/T]TTTTTTTTTGTGGGG | 728340 |
| rs199709030 | snp | A/G | 0.00711995 | 0.0592392 | missense, utr-variant-5-prime, intron-variant | GTF2H2C | GRCh38.p7 | 5:69566615 | ACCATGGACAAGTTC[A/G]ACTTGGAATGGTATG | 728340 |
| rs199720629 | snp | C/T | | | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69562313 | GTGAGTGAAACTCCG[C/T]CTTAAAACAAAAAAA | 728340 |
| rs199857838 | snp | G/T | 0.0188195 | 0.0951609 | intron-variant | GTF2H2C | GRCh38.p7 | 5:69582450 | TAAAGACCTTGAAAA[G/T]ATCAGTAATAATGTT | 728340 |
| rs199887403 | snp | A/G | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69581083 | ATTTTTAGTAGAGAC[A/G]GGGTTTCACCATGTT | 728340 |
| rs200495100 | in-del | -/G | 0.499437 | 0.0167637 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561564 | GTCTCAGAAAAAAAA[-/G]AAAAAAAAGAATTCC | 728340 |
| rs200500586 | snp | G/T | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69566536 | TTGTATTTTTTTTTG[G/T]GGGGGGGGATAGTAT | 728340 |
| rs200619279 | snp | C/T | 0.000546751 | 0.016525 | missense | GTF2H2C | GRCh38.p7 | 5:69572511 | GCCATGGAGAGCCAT[C/T]TCTTTATAATTCCCT | 728340 |
| rs200620823 | snp | A/G | 0.0534782 | 0.154529 | missense | GTF2H2C | GRCh38.p7 | 5:69567769 | TTTGATCAAAATCCT[A/G]TTAGTCAGGTACGTA | 728340 |
| rs201271819 | snp | A/G | 0.00109427 | 0.0233653 | missense | GTF2H2C | GRCh38.p7 | 5:69579864 | TCACTTATTCGTATG[A/G]GTAAGTGTTTTTATG | 728340 |
| rs201322877 | snp | C/T | 0.000177117 | 0.00940887 | missense, utr-variant-5-prime, intron-variant | GTF2H2C | GRCh38.p7 | 5:69566599 | AACAGAGTATTTGAG[C/T]ACCATGGACAAGTTC | 728340 |
| rs201361502 | snp | A/G | | | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561564 | GTCTCAGAAAAAAAA[A/G]AAAAAAAAGAATTCC | 728340 |
| rs201442523 | snp | C/T | 0.00430982 | 0.0462205 | synonymous-codon | GTF2H2C | GRCh38.p7 | 5:69572518 | AGAGCCATCTCTTTA[C/T]AATTCCCTAAGCATG | 728340 |
| rs201801283 | in-del | -/AGA | | | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69561554 | CAAGACTCTTGTCTC[-/AGA]AAAAAAAGAAAAAAA | 728340 |
| rs202004974 | snp | G/T | 0.0225045 | 0.103662 | intron-variant, upstream-variant-2KB | GTF2H2C | GRCh38.p7 | 5:69564153 | CAGGATTTCATTGTG[G/T]TTTTTTTTCGTTGTT | 728340 |
| rs367988135 | snp | C/T | | | intron-variant | GTF2H2C | GRCh38.p7 | 5:69568325 | TTCCTCTGTCTTCTC[C/T]AGGTGAAACAATTTA | 728340 |