SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs841 | snp | C/T | 0.332492 | 0.235998 | utr-variant-3-prime, intron-variant | GCH1 | GRCh38.p7 | 14:54843774 | CTAATAGTGTAAGTA[C/T]GTGCACAAAACCACT | 2643 |
rs987 | snp | C/T | 0 | 0 | utr-variant-3-prime, intron-variant | GCH1 | GRCh38.p7 | 14:54843776 | TGCTAATAGTGTAAG[C/T]ACGTGCACAAAACCA | 2643 |
rs752688 | snp | C/T | 0.354235 | 0.227234 | intron-variant | GCH1 | GRCh38.p7 | 14:54844851 | AGCTAAAGAAGAAAT[C/T]AAGAGAAGACATAAA | 2643 |
rs998259 | snp | C/T | 0.143622 | 0.226238 | intron-variant | GCH1 | GRCh38.p7 | 14:54888313 | AGTCAACAGAGTGAG[C/T]GATGACAATTCTGAC | 2643 |
rs1753589 | snp | C/T | 0.102726 | 0.202016 | utr-variant-5-prime | GCH1 | GRCh38.p7 | 14:54902784 | GTGATCTAAGCAGGT[C/T]GCGTACCTTCCTCAG | 2643 |
rs1952437 | snp | A/G | 0.379354 | 0.213933 | intron-variant | GCH1 | GRCh38.p7 | 14:54856732 | GGTGAGGTGGCTCAT[A/G]CCTGTAATCTCAGCA | 2643 |
rs2004633 | snp | A/G | 0.135825 | 0.222405 | intron-variant | GCH1 | GRCh38.p7 | 14:54845340 | CAGGTGTGTGTCACC[A/G]TGCCCGGCTAATTTT | 2643 |
rs2149482 | snp | A/G | 0.480775 | 0.0961398 | intron-variant | GCH1 | GRCh38.p7 | 14:54901909 | CGGCGACGGCTTCCT[A/G]GGTAGTTCCTTATTG | 2643 |
rs2149483 | snp | C/T | 0.440471 | 0.161928 | intron-variant | GCH1 | GRCh38.p7 | 14:54860819 | GGGCGTGGTGGCTCA[C/T]GCCTGTAATCCCAAC | 2643 |
rs2183080 | snp | C/G | 0.140581 | 0.224783 | intron-variant | GCH1 | GRCh38.p7 | 14:54902268 | CGGGGGCGGTGCTTG[C/G]AGGAAACGCGCGCCG | 2643 |
rs2183081 | snp | C/T | 0.499732 | 0.0115784 | intron-variant | GCH1 | GRCh38.p7 | 14:54870033 | CTTTTGCAGTGAAGT[C/T]CTCTCTCCTACCTCT | 2643 |
rs2183082 | snp | A/G | 0.499732 | 0.0115784 | intron-variant | GCH1 | GRCh38.p7 | 14:54869720 | GGCTGAGGCAGGTGG[A/G]TCACCTGAGGTCGGG | 2643 |
rs2183083 | snp | A/G | 0.0912534 | 0.193131 | intron-variant | GCH1 | GRCh38.p7 | 14:54869707 | GGGTCACCTGAGGTC[A/G]GGAGTTCCAGACCAG | 2643 |
rs2183084 | snp | C/G | 0.499653 | 0.0131743 | intron-variant | GCH1 | GRCh38.p7 | 14:54868344 | ttgtagcattgaact[C/G]ctgggcttaagtgat | 2643 |
rs2878168 | snp | A/G | 0.411746 | 0.190626 | intron-variant | GCH1 | GRCh38.p7 | 14:54854067 | TTTTAGTTACATATC[A/G]TCTCATTCCTAGATA | 2643 |
rs2878169 | snp | G/T | 0.0648419 | 0.167978 | intron-variant | GCH1 | GRCh38.p7 | 14:54859275 | TAGAAGAGTCCTCAG[G/T]CCTGACAACAAGTTC | 2643 |
rs2878170 | snp | A/G | 0.289683 | 0.24683 | intron-variant | GCH1 | GRCh38.p7 | 14:54868671 | CAGTGGCATGATCTC[A/G]GCTCACTGCAAGCTC | 2643 |
rs3221690 | microsatellite | (CA)19/20/21/22/23/24/25/26/27/28 | 0.797214 | 0.13061 | intron-variant | GCH1 | GRCh38.p7 | 14:54900846 | CATTGTGAAATATCT[lengthTooLong]TTTAAAGCCCTAGAC | 2643 |
rs3759660 | snp | C/T | | | upstream-variant-2KB | GCH1 | GRCh38.p7 | 14:54903869 | AATAATATTTTTTTT[C/T]TTTTTTTTTTTTTGA | 2643 |
rs3759661 | snp | C/T | | | upstream-variant-2KB | GCH1 | GRCh38.p7 | 14:54903870 | ATAATATTTTTTTTC[C/T]TTTTTTTTTTTTGAG | 2643 |
rs3759662 | snp | A/G | 0.254105 | 0.249966 | upstream-variant-2KB | GCH1 | GRCh38.p7 | 14:54903902 | CTCACTTCATCCTCC[A/G]CCTCCTGGGTTCAAA | 2643 |
rs3759663 | snp | A/C | 0.239902 | 0.249796 | upstream-variant-2KB | GCH1 | GRCh38.p7 | 14:54903962 | CTGGGATTACAGGCA[A/C]CTGCCACCATGCCCG | 2643 |
rs3759664 | snp | C/T | 0.351635 | 0.228408 | | | GRCh38.p7 | 14:54904861 | GAGATGCTTTCAGTA[C/T]GAATTTATTTTTAGT | 2643 |
rs3783637 | snp | C/T | 0.325091 | 0.238456 | intron-variant | GCH1 | GRCh38.p7 | 14:54881400 | TTTGCTTTCTACCAC[C/T]TGTTTGAAAAATTTG | 2643 |
rs3783638 | snp | A/G | 0.421684 | 0.181726 | intron-variant, utr-variant-5-prime | GCH1 | GRCh38.p7 | 14:54881655 | TCACACCATCTGCTG[A/G]AGTGCACAGAGCTGC | 2643 |
rs3783639 | snp | C/T | 0.288646 | 0.246995 | intron-variant, utr-variant-5-prime | GCH1 | GRCh38.p7 | 14:54881948 | TCCTCTCAGCCAGCC[C/T]TGTCACAAACACTAC | 2643 |
rs3783640 | snp | C/T | 0.499631 | 0.0135733 | intron-variant | GCH1 | GRCh38.p7 | 14:54885803 | CTGAGGCACAAGAAT[C/T]ACTTGAACCCAGGAG | 2643 |
rs3783641 | snp | A/T | 0.34989 | 0.229177 | intron-variant | GCH1 | GRCh38.p7 | 14:54893421 | TCATATAGAAATCAC[A/T]GGCAAATGAGTCAGG | 2643 |
rs3783642 | snp | C/T | 0.499017 | 0.0221427 | intron-variant | GCH1 | GRCh38.p7 | 14:54893485 | GGTGGACAAAGCAAA[C/T]AGCAGAGAAAATACA | 2643 |
rs3825610 | snp | A/T | 0.326741 | 0.23793 | intron-variant | GCH1 | GRCh38.p7 | 14:54881198 | ATAAAAATAAAAAAA[A/T]TTTAAAAAGAAACAA | 2643 |
rs3825611 | snp | C/G | 0.419936 | 0.183362 | intron-variant, utr-variant-5-prime | GCH1 | GRCh38.p7 | 14:54882119 | CCCTCCACCCTGATG[C/G]AATTACTTTACTGCC | 2643 |
rs4363780 | snp | A/G | 0.422158 | 0.181278 | intron-variant | GCH1 | GRCh38.p7 | 14:54871198 | tgttcaccaatatcc[A/G]ctgttctgcagcctc | 2643 |
rs4363781 | snp | A/G | 0.422158 | 0.181278 | intron-variant | GCH1 | GRCh38.p7 | 14:54871221 | gcagcctccgctgct[A/G]atacccaggcaaaca | 2643 |
rs4402455 | snp | G/T | 0.413914 | 0.188765 | intron-variant | GCH1 | GRCh38.p7 | 14:54871151 | cctctgagacaaaac[G/T]tccagaggaacgatc | 2643 |
rs4411417 | snp | C/T | 0.352287 | 0.228117 | intron-variant | GCH1 | GRCh38.p7 | 14:54853845 | CTCTTGAATTATTTA[C/T]ACACATGCAAAATTT | 2643 |
rs4462519 | snp | A/G | 0.492871 | 0.0592773 | intron-variant | GCH1 | GRCh38.p7 | 14:54861711 | CTAGGCAACAAGAGC[A/G]AAACTGTCTCAAAAA | 2643 |
rs6572984 | snp | A/C | 0.0197687 | 0.0974348 | utr-variant-3-prime | GCH1 | GRCh38.p7 | 14:54842052 | ATTTAAATAGGACCA[A/C]CTTCAGGAACATACA | 2643 |
rs7140523 | snp | C/T | 0.0517044 | 0.152246 | intron-variant | GCH1 | GRCh38.p7 | 14:54852242 | ttctggtcacaaaaa[C/T]gtcaacaaacttcca | 2643 |
rs7141319 | snp | A/G | 0.41325 | 0.18934 | intron-variant | GCH1 | GRCh38.p7 | 14:54869642 | CATACCACCACGCCC[A/G]GCTAATTTTGTATTT | 2643 |
rs7141433 | snp | C/T | 0.294576 | 0.245994 | intron-variant | GCH1 | GRCh38.p7 | 14:54869559 | AATCTCAGCTCACTG[C/T]AACCTCTGCCTCCCA | 2643 |
rs7141483 | snp | C/T | 0.41325 | 0.18934 | intron-variant | GCH1 | GRCh38.p7 | 14:54869641 | ACATACCACCACGCC[C/T]AGCTAATTTTGTATT | 2643 |
rs7147040 | snp | C/T | 0.0107246 | 0.0724382 | intron-variant | GCH1 | GRCh38.p7 | 14:54892037 | tgaacaaaatcatta[C/T]gctgaggttgctaaa | 2643 |
rs7147200 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | GCH1 | GRCh38.p7 | 14:54861338 | AACCAAGGTCTTCTA[C/T]GCTGTCTGAAATTTT | 2643 |
rs7147201 | snp | A/G | 0.416708 | 0.186302 | intron-variant | GCH1 | GRCh38.p7 | 14:54892159 | agctatggccacagc[A/G]catggtaagtgctta | 2643 |
rs7147286 | snp | A/G | 0.494187 | 0.0535994 | intron-variant | GCH1 | GRCh38.p7 | 14:54891947 | cacaagagtagtgac[A/G]ttggcaattcagtta | 2643 |
rs7153186 | snp | A/G | 0.0850919 | 0.187897 | intron-variant | GCH1 | GRCh38.p7 | 14:54855541 | aaaaGCTggccgggt[A/G]cagtgactcatgcct | 2643 |
rs7153566 | snp | A/G | 0.0372196 | 0.131242 | intron-variant | GCH1 | GRCh38.p7 | 14:54855717 | tactggggaggctga[A/G]gcaggagaatcactt | 2643 |
rs7155099 | snp | G/T | 0.0154538 | 0.0865337 | intron-variant | GCH1 | GRCh38.p7 | 14:54856005 | TGTATTTAAATGGTA[G/T]GTTGCTTTTATAGTC | 2643 |
rs7155309 | snp | C/T | 0.352721 | 0.227922 | intron-variant | GCH1 | GRCh38.p7 | 14:54856133 | GCCTTGCTCCTACCC[C/T]CTGACTGGTCTTTGC | 2643 |
rs7155501 | snp | A/G | 0.49621 | 0.0433651 | intron-variant | GCH1 | GRCh38.p7 | 14:54881109 | ggattacaggtgtga[A/G]ccaccgcgccaggcc | 2643 |
rs7156475 | snp | G/T | 0.0622301 | 0.165053 | intron-variant | GCH1 | GRCh38.p7 | 14:54865179 | GTTTCAAGTTATTAG[G/T]CAGGTTAATAAAGAA | 2643 |
rs7161034 | snp | A/C | 0.490727 | 0.0674567 | intron-variant | GCH1 | GRCh38.p7 | 14:54851628 | cacgaaaaaatgctc[A/C]tcatcactggccatc | 2643 |
rs7342548 | snp | A/C | 0.0298908 | 0.118541 | upstream-variant-2KB | GCH1 | GRCh38.p7 | 14:54904215 | ATGCTAACAATGTAG[A/C]TTGGTCATTATAATA | 2643 |
rs7492600 | snp | G/T | 0.422315 | 0.181128 | intron-variant | GCH1 | GRCh38.p7 | 14:54870157 | gtacatgtaaagtag[G/T]taaattttacataag | 2643 |
rs7493025 | snp | C/T | 0.29046 | 0.246704 | intron-variant | GCH1 | GRCh38.p7 | 14:54845261 | GTGACGGGTGGATCA[C/T]GAGGTCAGGAGTTCG | 2643 |
rs8003903 | snp | C/T | 0.208474 | 0.246527 | intron-variant | GCH1 | GRCh38.p7 | 14:54891053 | ttggtcaaacatggt[C/T]tgaaaatactaaatg | 2643 |
rs8004018 | snp | A/G | 0.414576 | 0.188188 | intron-variant, upstream-variant-2KB | GCH1 | GRCh38.p7 | 14:54883978 | AGGACCTCACATCAG[A/G]AAGTTGTACCCACAT | 2643 |
rs8004445 | snp | G/T | 0.422315 | 0.181128 | intron-variant, upstream-variant-2KB | GCH1 | GRCh38.p7 | 14:54883948 | TTTTGCTGGAGCAAA[G/T]TTTAAAAATTTGTGA | 2643 |
rs8007201 | snp | A/G | 0.493386 | 0.0571263 | intron-variant | GCH1 | GRCh38.p7 | 14:54858130 | TTGTCAGATTGCTGG[A/G]GTAGTTTTTTTTTTA | 2643 |
rs8009470 | snp | A/C | | | intron-variant | GCH1 | GRCh38.p7 | 14:54870333 | ccagactctgttttt[A/C]ccaaaaaaaaaaaaa | 2643 |
rs8009759 | snp | A/C | 0.486266 | 0.0817214 | intron-variant | GCH1 | GRCh38.p7 | 14:54884799 | CAACAACAACAACAA[A/C]AAAAAAAAAGATTAC | 2643 |
rs8010282 | snp | A/G | 0.350327 | 0.228986 | intron-variant | GCH1 | GRCh38.p7 | 14:54863537 | gaggcaacaatacaa[A/G]ggtccaccaagagca | 2643 |
rs8010461 | snp | G/T | 0.401037 | 0.199218 | intron-variant, upstream-variant-2KB | GCH1 | GRCh38.p7 | 14:54884467 | TTTTCTTTTTTTCTT[G/T]TTTTGTAAGATTACA | 2643 |
rs8010689 | snp | A/G | 0.350327 | 0.228986 | intron-variant | GCH1 | GRCh38.p7 | 14:54863538 | aggcaacaatacaaa[A/G]gtccaccaagagcag | 2643 |
rs8011712 | snp | C/G | | | intron-variant | GCH1 | GRCh38.p7 | 14:54888353 | CATGCTCAGAGACCT[C/G]GGCATGACAATTTAA | 2643 |
rs8011751 | snp | C/T | 0.0528381 | 0.153711 | intron-variant | GCH1 | GRCh38.p7 | 14:54863556 | ccaccaagagcagaa[C/T]agataaattgtggta | 2643 |
rs8016730 | snp | A/C | 0.0023933 | 0.0345097 | intron-variant | GCH1 | GRCh38.p7 | 14:54895054 | TCACCACAGCAGTCT[A/C]ATTTAATAAATCCGA | 2643 |
rs8017210 | snp | A/G | 0.350764 | 0.228794 | intron-variant | GCH1 | GRCh38.p7 | 14:54895118 | GATTGCTACATTTCA[A/G]TATGAAGTGTCTAAG | 2643 |
rs8018688 | snp | A/G | 0.422787 | 0.180679 | intron-variant | GCH1 | GRCh38.p7 | 14:54898663 | CTCACTCTGTCAACC[A/G]GGCTGCAGTGCATTG | 2643 |
rs8019791 | snp | C/T | 0.0825414 | 0.185628 | intron-variant | GCH1 | GRCh38.p7 | 14:54898554 | aacacattgtacagc[C/T]gtgcaaaaatatttt | 2643 |
rs8019824 | snp | A/T | 0.478354 | 0.101757 | intron-variant | GCH1 | GRCh38.p7 | 14:54898613 | TTTAATTTTAATTTT[A/T]ATTTTTATTTATTTA | 2643 |
rs8020798 | snp | C/T | 0.306679 | 0.24349 | intron-variant | GCH1 | GRCh38.p7 | 14:54886650 | CACCAGTTATTGTCC[C/T]GACTTTACAGATGAG | 2643 |
rs9671371 | snp | C/T | 0.436408 | 0.16659 | intron-variant | GCH1 | GRCh38.p7 | 14:54861917 | cacaggctttctgtg[C/T]ctaatttgctcacca | 2643 |
rs9671455 | snp | C/G | 0.406468 | 0.194981 | intron-variant | GCH1 | GRCh38.p7 | 14:54862362 | TGAAGTCTTCAGCAC[C/G]CTTATGAAGCACTAC | 2643 |
rs9671850 | snp | A/T | 0.404733 | 0.196361 | intron-variant | GCH1 | GRCh38.p7 | 14:54862203 | ATGCCCAATTAATTT[A/T]AAAAAAAAATTTATT | 2643 |
rs9672037 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | GCH1 | GRCh38.p7 | 14:54851199 | actggatcccttcct[C/T]acaccttatacaaaa | 2643 |
rs9743836 | snp | A/G | | | intron-variant | GCH1 | GRCh38.p7 | 14:54871161 | aaaacttccagagga[A/G]cgatcaggcagcaac | 2643 |
rs9805909 | snp | A/C | | | intron-variant | GCH1 | GRCh38.p7 | 14:54884780 | tgtctcaaaacaaca[A/C]caacaacaacaacaa | 2643 |
rs9972204 | snp | A/G | 0.0919752 | 0.193722 | intron-variant | GCH1 | GRCh38.p7 | 14:54900169 | cgcgcccggccCATG[A/G]ACTTTTTAAATAGTA | 2643 |
rs10129468 | snp | A/G | 0.0182019 | 0.0936463 | intron-variant | GCH1 | GRCh38.p7 | 14:54860605 | GAGTACAGTGGCCCA[A/G]TCTTGGCTCACTGCA | 2643 |
rs10129528 | snp | C/T | 0.125874 | 0.217008 | intron-variant | GCH1 | GRCh38.p7 | 14:54853552 | TTATATCTTGATACG[C/T]TGTGCCAAGAGGGGC | 2643 |
rs10131232 | snp | A/G | 0.493925 | 0.054776 | intron-variant | GCH1 | GRCh38.p7 | 14:54849190 | TTTTACTGAGTGCCT[A/G]CTATGTATGTGATTA | 2643 |
rs10131563 | snp | C/T | 0.0988009 | 0.199095 | intron-variant | GCH1 | GRCh38.p7 | 14:54896683 | tttgggaggccgagg[C/T]gggcggatcacaaag | 2643 |
rs10131633 | snp | A/G | 0.49121 | 0.0657086 | intron-variant | GCH1 | GRCh38.p7 | 14:54896603 | CACACACACAATTAT[A/G]CCTATAAAACCTACA | 2643 |
rs10132356 | snp | C/T | 0.0998734 | 0.199905 | intron-variant | GCH1 | GRCh38.p7 | 14:54891529 | attctcgtgcctcag[C/T]ctcccgagtacctgg | 2643 |
rs10133449 | snp | C/T | 0.423413 | 0.180077 | intron-variant, upstream-variant-2KB | GCH1, MIR4308 | GRCh38.p7 | 14:54879352 | cttgaacctgggagg[C/T]gaaggttgcagtgac | 2643 |
rs10133650 | snp | C/G | 0.499631 | 0.0135733 | intron-variant, upstream-variant-2KB | GCH1, MIR4308 | GRCh38.p7 | 14:54879555 | CCCAGCAATGAAAGT[C/G]AGTAAATTTGGGCTG | 2643 |
rs10133661 | snp | C/T | 0.0948562 | 0.196037 | intron-variant | GCH1 | GRCh38.p7 | 14:54893338 | CCAATGATTAGACAG[C/T]TGCCCTCTCCTGGTG | 2643 |
rs10133662 | snp | A/G | 0.493969 | 0.05458 | intron-variant | GCH1 | GRCh38.p7 | 14:54849552 | ATTTTATAAGTATAT[A/G]CTGCAATTTACTATG | 2643 |
rs10133941 | snp | C/T | 0.493837 | 0.055168 | intron-variant | GCH1 | GRCh38.p7 | 14:54849794 | TTCTACCTGTCTTTG[C/T]GCTGCATTCAGCACA | 2643 |
rs10134163 | snp | C/T | 0.422158 | 0.181278 | intron-variant | GCH1 | GRCh38.p7 | 14:54870955 | aaaggcagcagaaac[C/T]tctgcagacttaaaa | 2643 |
rs10134429 | snp | G/T | 0.0858192 | 0.188533 | intron-variant | GCH1 | GRCh38.p7 | 14:54894127 | gttgaattgtgccat[G/T]cgccaaaaaagatat | 2643 |
rs10136545 | snp | C/T | 0.496416 | 0.0421803 | intron-variant | GCH1 | GRCh38.p7 | 14:54886145 | TCAGCATCCTGACAA[C/T]CTGGGAGAAGTCCTG | 2643 |
rs10136966 | snp | C/T | 0.0126979 | 0.078662 | utr-variant-3-prime, intron-variant | GCH1 | GRCh38.p7 | 14:54843340 | CCCTGTATGTTGACA[C/T]GAGAATACACTCGTA | 2643 |
rs10136972 | snp | A/G | 0.481627 | 0.0940692 | upstream-variant-2KB | GCH1 | GRCh38.p7 | 14:54903567 | GATCGCTTGAGGCCA[A/G]GAGTTCGAGACCAGC | 2643 |
rs10137071 | snp | C/T | 0.481627 | 0.0940692 | upstream-variant-2KB | GCH1 | GRCh38.p7 | 14:54903622 | CTCTATAAAACCCAT[C/T]GCATTTTCTAGAAAC | 2643 |
rs10137881 | snp | A/G | 0.089084 | 0.191327 | intron-variant | GCH1 | GRCh38.p7 | 14:54868454 | taaaaaaaaaaatta[A/G]ggcatcaaagtcatg | 2643 |
rs10138301 | snp | A/G | 0.103438 | 0.202533 | intron-variant | GCH1 | GRCh38.p7 | 14:54868852 | tgatccacccgcctc[A/G]gcctcccaaagtgct | 2643 |
rs10138429 | snp | A/G | 0.444 | 0.157683 | intron-variant | GCH1 | GRCh38.p7 | 14:54869029 | caggcatgcaccacc[A/G]cctggcTCCAATATT | 2643 |
rs10138594 | snp | A/C | 0.100588 | 0.200439 | intron-variant | GCH1 | GRCh38.p7 | 14:54899171 | ATGGCTTATAATAAT[A/C]TTAAATGggctgggt | 2643 |