SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs3685 | snp | A/G | 0.377187 | 0.215229 | intron-variant | CHFR | GRCh38.p7 | 12:132864844 | CGCTGCCCTTTTTAA[A/G]TAGAACATTATCAAA | 55743 |
rs8021 | snp | A/G | 0.383632 | 0.211288 | utr-variant-3-prime | CHFR | GRCh38.p7 | 12:132840699 | CACGGCCCCAAGCCC[A/G]GGGCTGGAGGCAGGT | 55743 |
rs15638 | snp | C/T | 0.380333 | 0.213338 | utr-variant-3-prime | CHFR | GRCh38.p7 | 12:132840776 | CCAGGCTCGGGGCCG[C/T]GGTCACTCACACAAG | 55743 |
rs1045979 | snp | A/G | 0.253824 | 0.249971 | utr-variant-3-prime | CHFR | GRCh38.p7 | 12:132841483 | AAAATACAGAGACAA[A/G]CACGTCAAGGTGTTT | 55743 |
rs1046106 | snp | C/T | 0 | 0 | utr-variant-3-prime | CHFR | GRCh38.p7 | 12:132840474 | ACTTTTTTGCTTCTT[C/T]TCAGGAATACAGTTT | 55743 |
rs1046130 | snp | C/T | 0.0117874 | 0.0758601 | utr-variant-3-prime | CHFR | GRCh38.p7 | 12:132840378 | TCTCTTTTGCATATT[C/T]TAATAAATGAGCCGC | 55743 |
rs2062161 | snp | A/G | 0.300926 | 0.244758 | intron-variant | CHFR | GRCh38.p7 | 12:132851446 | ATGTTACTAGATGGT[A/G]GGAAAAGATAGATTA | 55743 |
rs2062162 | snp | C/T | 0.336702 | 0.234484 | intron-variant | CHFR | GRCh38.p7 | 12:132856158 | ATGCCACACCCATGA[C/T]GAGTCGAAGCAAAGG | 55743 |
rs2062163 | snp | C/T | 0.0184896 | 0.0943553 | synonymous-codon | CHFR | GRCh38.p7 | 12:132856587 | TTGAGTGATTTTATT[C/T]CTGGCATCCATACTT | 55743 |
rs2076920 | snp | A/G | 0.487746 | 0.0773096 | downstream-variant-500B | CHFR | GRCh38.p7 | 12:132839877 | GAGCAGGGAGGTCCC[A/G]AGTTAGTGCAGGGGC | 55743 |
rs2128609 | snp | C/T | 0.0577344 | 0.159793 | intron-variant | CHFR | GRCh38.p7 | 12:132857018 | ATGCCCTCACGTGCC[C/T]GGGTGCTGGTGGAGG | 55743 |
rs2279313 | snp | C/T | 0.244776 | 0.249945 | intron-variant | CHFR | GRCh38.p7 | 12:132853048 | AGCTTCTGGTGACAT[C/T]GCCACTGCTGGGGAG | 55743 |
rs2291253 | snp | C/G | 0.493293 | 0.0575177 | intron-variant | CHFR | GRCh38.p7 | 12:132871967 | AGACCCCTGGTCCTA[C/G]GTTTTATTCCCCATA | 55743 |
rs2291254 | snp | A/G | 0.233235 | 0.249437 | intron-variant | CHFR | GRCh38.p7 | 12:132872229 | GAACGTTCAGAGAGC[A/G]CCCTCACGTGCACCC | 55743 |
rs2291255 | snp | A/C | 0.309401 | 0.24284 | intron-variant | CHFR | GRCh38.p7 | 12:132872781 | TTGCAGCCATCACAA[A/C]CCCGGTGAACTCATG | 55743 |
rs2306536 | snp | C/T | 0.303508 | 0.244207 | missense | CHFR | GRCh38.p7 | 12:132847076 | CCCGCTGGAGAGCCA[C/T]GAGGCTCTCGGTCAA | 55743 |
rs2306537 | snp | A/G | 0.354072 | 0.227318 | synonymous-codon | CHFR | GRCh38.p7 | 12:132847109 | TGTTTTTCCATGTCA[A/G]ACCTCTGGTTGCCAG | 55743 |
rs2306538 | snp | A/G | 0.320335 | 0.239902 | intron-variant | CHFR | GRCh38.p7 | 12:132847298 | CACGGCCTGCAGCAC[A/G]AGAAGTCTTGTCCAA | 55743 |
rs2306539 | snp | A/G | 0.273587 | 0.248885 | intron-variant | CHFR | GRCh38.p7 | 12:132856406 | CAGTAGTGAGCTCTC[A/G]GTCACGGTTGTGATG | 55743 |
rs2306540 | snp | C/T | 0.24449 | 0.249939 | intron-variant | CHFR | GRCh38.p7 | 12:132851545 | AGGTTACCCTAAGGC[C/T]AACACCGCTTTGAAA | 55743 |
rs2306541 | snp | A/G | 0.403429 | 0.197382 | missense | CHFR | GRCh38.p7 | 12:132851656 | TCCTGCTCGCGCTCC[A/G]CTCTCCGGTCGGGCA | 55743 |
rs2306542 | snp | C/G | 0.377187 | 0.215229 | intron-variant | CHFR | GRCh38.p7 | 12:132861688 | CAGCTCAGGAGAGAA[C/G]CATGCCTGTAAGGTG | 55743 |
rs2306543 | snp | C/T | 0.320335 | 0.239902 | intron-variant | CHFR | GRCh38.p7 | 12:132861691 | CTCAGGAGAGAACCA[C/T]GCCTGTAAGGTGTCA | 55743 |
rs2306544 | snp | C/T | 0.239614 | 0.249784 | intron-variant | CHFR | GRCh38.p7 | 12:132842832 | ATGCAGTTTTATCTC[C/T]GTCTTCCACTTCTGT | 55743 |
rs2306545 | snp | C/T | 0.301177 | 0.244706 | intron-variant | CHFR | GRCh38.p7 | 12:132842710 | GCAGTCACTGAGGGC[C/T]TCAGGCCCCCCTCGC | 55743 |
rs3741489 | snp | C/T | 0.301177 | 0.244706 | utr-variant-3-prime | CHFR | GRCh38.p7 | 12:132841216 | CTAAAAACAGACTTC[C/T]GCTTTAACTGTAGTT | 55743 |
rs3741490 | snp | C/T | 0.380919 | 0.21298 | utr-variant-3-prime | CHFR | GRCh38.p7 | 12:132841322 | CTGCTGATGCCACCA[C/T]GAGCCCTGCCCAGCG | 55743 |
rs3741492 | snp | C/T | 0.320575 | 0.239832 | intron-variant | CHFR | GRCh38.p7 | 12:132843688 | GAAAAGAGTGCTGGC[C/T]GAGCGTGGTGGCTCA | 55743 |
rs3741493 | snp | C/T | 0.0633504 | 0.166319 | intron-variant | CHFR | GRCh38.p7 | 12:132843809 | AAAAAATTAGCCGGG[C/T]GTGGTGGCGGGTGCC | 55743 |
rs3741494 | snp | C/T | 0.194278 | 0.243711 | upstream-variant-2KB, nc-transcript-variant | CHFR, LOC101928530 | GRCh38.p7 | 12:132887914 | GGAGTAGAAGACGGT[C/T]CATCTTAGTTGTCAC | 55743 |
rs3782223 | snp | A/G | 0.269267 | 0.249256 | intron-variant | CHFR | GRCh38.p7 | 12:132872863 | ACTAAATGCTGGGCC[A/G]TCAGCTGCAGGACAT | 55743 |
rs3782224 | snp | A/C | 0.249603 | 0.25 | intron-variant | CHFR | GRCh38.p7 | 12:132873251 | CCATAAACAGAGGGT[A/C]AACAGTGTAGGTTTT | 55743 |
rs3816759 | snp | C/T | 0.277507 | 0.248482 | intron-variant | CHFR | GRCh38.p7 | 12:132856651 | ATTGAAAGGACACAG[C/T]GCCATTCACCGGCAG | 55743 |
rs3832803 | in-del | -/A | 0.382085 | 0.212258 | downstream-variant-500B | CHFR | GRCh38.p7 | 12:132840327 | AAGTGAGGCAGCCCC[-/A]AGACACGAGCCCAAC | 55743 |
rs3832804 | in-del | -/AA | 0.478104 | 0.102316 | utr-variant-3-prime | CHFR | GRCh38.p7 | 12:132841396 | TCTCACTCAGAGGGT[-/AA]AAAGCTCCACAGAAG | 55743 |
rs4237797 | snp | C/T | 0.0569829 | 0.158885 | intron-variant | CHFR | GRCh38.p7 | 12:132865101 | AAATACTAGTAACCC[C/T]GCGTCCTGTCTGTGC | 55743 |
rs4303268 | snp | G/T | 0.0652144 | 0.168387 | intron-variant | CHFR | GRCh38.p7 | 12:132864792 | CACACCCGGCCAGAA[G/T]AATTTTTTTTTTAAT | 55743 |
rs4758887 | snp | G/T | 0.28578 | 0.247426 | intron-variant, upstream-variant-2KB | CHFR, LOC101928530 | GRCh38.p7 | 12:132886557 | AACCAGATGGTCACT[G/T]GGGAGACTGGAGGCA | 55743 |
rs4758888 | snp | A/G | 0.331179 | 0.236453 | intron-variant, upstream-variant-2KB | CHFR, LOC101928530 | GRCh38.p7 | 12:132886923 | CCATTACAGTCAGAA[A/G]AGATACTCTGTACGG | 55743 |
rs4758909 | snp | A/G | 0.0573587 | 0.15934 | utr-variant-3-prime | CHFR | GRCh38.p7 | 12:132841203 | CTTGAAACTTTTCCT[A/G]AAAACAGACTTCTGC | 55743 |
rs4758910 | snp | A/G | 0.319856 | 0.240042 | intron-variant | CHFR | GRCh38.p7 | 12:132857630 | TCGACCAAGGTCCGC[A/G]GCAGCCCCACCACGG | 55743 |
rs4758911 | snp | A/C | 0.319856 | 0.240042 | intron-variant | CHFR | GRCh38.p7 | 12:132857917 | AATACACCTTCCCAG[A/C]TAAGGAGCATTTAAA | 55743 |
rs4758912 | snp | C/T | 0.039522 | 0.134904 | intron-variant | CHFR | GRCh38.p7 | 12:132865497 | CCTGTCTCAGCTTCC[C/T]GAGTAGCTGGGACTA | 55743 |
rs4758913 | snp | A/G | 0.0711525 | 0.174681 | intron-variant | CHFR | GRCh38.p7 | 12:132871665 | TAATCCCAGCTACTC[A/G]GGAGGCTGAGGCAGG | 55743 |
rs4758914 | snp | A/G | 0.0611083 | 0.163768 | intron-variant | CHFR | GRCh38.p7 | 12:132878583 | GGTCCGGTGGCTCAC[A/G]ccgaggcgggcagat | 55743 |
rs4758948 | snp | A/G | 0.300421 | 0.244863 | intron-variant | CHFR | GRCh38.p7 | 12:132841810 | TAAAAATTTTGAAAC[A/G]GAAGTGCAAACATCT | 55743 |
rs4758949 | snp | C/T | 0.319616 | 0.240112 | intron-variant | CHFR | GRCh38.p7 | 12:132841970 | AAAAAATTAGCCTGA[C/T]GTGGTGGCGAGCACC | 55743 |
rs4758950 | snp | A/G | 0.319856 | 0.240042 | intron-variant | CHFR | GRCh38.p7 | 12:132843222 | ATAACTAGTTTCCTC[A/G]GACCGTTCTGAGATT | 55743 |
rs4758951 | snp | A/G | 0.473081 | 0.112848 | intron-variant | CHFR | GRCh38.p7 | 12:132845629 | CACTCCAGCCTGGGC[A/G]ACAGAGCAAGAACCT | 55743 |
rs4758952 | snp | A/G | 0.029116 | 0.117091 | intron-variant | CHFR | GRCh38.p7 | 12:132854398 | ACTCGACTGCTTCAC[A/G]TCTAAACATTGACGT | 55743 |
rs4758953 | snp | C/G | 0.301177 | 0.244706 | intron-variant | CHFR | GRCh38.p7 | 12:132854409 | TCACGTCTAAACATT[C/G]ACGTCACTGCGCATG | 55743 |
rs4758954 | snp | C/T | 0.320096 | 0.239972 | intron-variant | CHFR | GRCh38.p7 | 12:132857967 | TCTGTTTGCAGAGTT[C/T]ACGGGGTCACACACG | 55743 |
rs4758955 | snp | C/T | 0.326035 | 0.238157 | intron-variant | CHFR | GRCh38.p7 | 12:132859009 | CCCAGCCCTGCCCCA[C/T]ACGGGACGAAGAACC | 55743 |
rs5801995 | in-del | -/AGA | 0.245631 | 0.249962 | intron-variant | CHFR | GRCh38.p7 | 12:132864468 | CTTAGGCATACAGAT[-/AGA]AGAATTTTTATTTTT | 55743 |
rs6560907 | snp | C/T | 0.319856 | 0.240042 | intron-variant | CHFR | GRCh38.p7 | 12:132850359 | CAATGCCTCTATATA[C/T]GAAGCATGCTCTGTG | 55743 |
rs6560908 | snp | A/G | 0.37778 | 0.214877 | intron-variant | CHFR | GRCh38.p7 | 12:132852763 | CTACAAGAAGCCACT[A/G]AGAATGCAGCACAAG | 55743 |
rs6560909 | snp | A/G | 0.0733688 | 0.176922 | intron-variant | CHFR | GRCh38.p7 | 12:132878595 | CACAccgaggcgggc[A/G]gatcacaaggtcagg | 55743 |
rs6560910 | snp | A/G | 0.0741063 | 0.177655 | intron-variant, upstream-variant-2KB | CHFR, LOC101928530 | GRCh38.p7 | 12:132886141 | ATATGGCGAAAGCTC[A/G]TCTCTACTAAAAATA | 55743 |
rs7133593 | snp | C/T | 0.0611083 | 0.163768 | intron-variant | CHFR | GRCh38.p7 | 12:132883407 | ctccagcctgagaaa[C/T]aggagtgaaactccg | 55743 |
rs7134338 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | CHFR | GRCh38.p7 | 12:132851880 | CCCTGCTAAACCACC[A/G]GGGACCTTCTGCCAC | 55743 |
rs7136785 | snp | A/C | 0.248755 | 0.249997 | intron-variant, upstream-variant-2KB | CHFR, LOC101928530 | GRCh38.p7 | 12:132886500 | TGTTGACAGGACCAG[A/C]GCATTTCTCTCCCCA | 55743 |
rs7297261 | snp | A/T | 0.377187 | 0.215229 | intron-variant | CHFR | GRCh38.p7 | 12:132856067 | GACTTTATAGTCGCT[A/T]GATCAACTACAAAGA | 55743 |
rs7297272 | snp | A/C | 0.370568 | 0.219005 | intron-variant, upstream-variant-2KB | CHFR, LOC101928530 | GRCh38.p7 | 12:132886173 | AAAAATTAGCCAGGC[A/C]TGGTGGCGCACGCCT | 55743 |
rs7300520 | snp | G/T | 0.332799 | 0.23589 | intron-variant | CHFR | GRCh38.p7 | 12:132866932 | CCAGCTACTCAGGAG[G/T]CTGAGGCAGGGGAAT | 55743 |
rs7300955 | snp | C/T | 0.370365 | 0.219117 | intron-variant | CHFR | GRCh38.p7 | 12:132881792 | agaatggcttgaacc[C/T]gggaggcggaggttg | 55743 |
rs7301483 | snp | C/G/T | | | intron-variant | CHFR | GRCh38.p7 | 12:132868987 | ggggaaggggacatg[C/G/T]ggagtgactgctgct | 55743 |
rs7301492 | snp | C/G | | | intron-variant | CHFR | GRCh38.p7 | 12:132869001 | gcggagtgactgctg[C/G]tgggGCTGAGGGGAA | 55743 |
rs7301501 | snp | C/G/T | 0 | 0 | intron-variant | CHFR | GRCh38.p7 | 12:132869026 | ggggaaggggacatg[C/G/T]ggagtgactgctgct | 55743 |
rs7301505 | snp | C/G | 0.5 | 0 | intron-variant | CHFR | GRCh38.p7 | 12:132869040 | gcggagtgactgctg[C/G]tggggtcgaggGGAA | 55743 |
rs7301970 | snp | C/T | | | intron-variant | CHFR | GRCh38.p7 | 12:132846444 | attttttgtattttt[C/T]tttttttagtagaga | 55743 |
rs7304156 | snp | G/T | 0.379354 | 0.213933 | intron-variant | CHFR | GRCh38.p7 | 12:132867289 | CCTGCACCCGATGCC[G/T]CTCCTTCCCCAAATC | 55743 |
rs7308940 | snp | A/C | 0.0704125 | 0.17392 | intron-variant | CHFR | GRCh38.p7 | 12:132864101 | ATAACCTATATCTTA[A/C]TAAAGACTTAGTTTA | 55743 |
rs7311425 | snp | C/T | 0 | 0 | intron-variant | CHFR | GRCh38.p7 | 12:132869046 | tgactgctgctgggg[C/T]cgaggGGAAGGGGAC | 55743 |
rs7312722 | snp | C/T | 0.377385 | 0.215112 | intron-variant | CHFR | GRCh38.p7 | 12:132864094 | GGTGTGAATAACCTA[C/T]ATCTTAATAAAGACT | 55743 |
rs7314999 | snp | A/G | 0.319856 | 0.240042 | intron-variant | CHFR | GRCh38.p7 | 12:132850563 | ACCGCCCAGATCACC[A/G]GGTGTGTCCCACGGC | 55743 |
rs7954583 | snp | C/T | | | intron-variant | CHFR | GRCh38.p7 | 12:132873089 | AGAGCACAGCATACC[C/T]GACACACAAAACGGC | 55743 |
rs7954854 | snp | C/T | 0.370162 | 0.219229 | intron-variant | CHFR | GRCh38.p7 | 12:132883626 | cagctacttgggagg[C/T]tgaggcaggagaatg | 55743 |
rs7957697 | snp | C/G | 0.245916 | 0.249967 | intron-variant | CHFR | GRCh38.p7 | 12:132879297 | accgcacctggccTG[C/G]GATAGGCATTTGTAC | 55743 |
rs7958545 | snp | A/T | 0.116838 | 0.211584 | intron-variant | CHFR | GRCh38.p7 | 12:132854202 | CACAGTGAAAAGACA[A/T]TTTTTTCATAAGGAA | 55743 |
rs7961664 | snp | C/T | 0 | 0 | intron-variant | CHFR | GRCh38.p7 | 12:132880270 | aagacaggcaaaaat[C/T]ttagtgccgttgggt | 55743 |
rs7961946 | snp | C/T | 0.386694 | 0.20932 | intron-variant | CHFR | GRCh38.p7 | 12:132880526 | agctgggcgtgatgg[C/T]gggcgcctgtagtcc | 55743 |
rs7962983 | snp | A/G | | | intron-variant | CHFR | GRCh38.p7 | 12:132879066 | ctggagtgcagtggc[A/G]ccatctcggctcacc | 55743 |
rs7963065 | snp | A/C | 0.390651 | 0.206682 | intron-variant, upstream-variant-2KB | CHFR, LOC101928530 | GRCh38.p7 | 12:132886347 | AAAAAAACCAGGTGC[A/C]AGCACATTATAAGGG | 55743 |
rs7963336 | snp | C/T | 0.00795532 | 0.062565 | intron-variant | CHFR | GRCh38.p7 | 12:132875670 | TGAGTAACACTGACA[C/T]AGACttcccttccga | 55743 |
rs7963509 | snp | A/G | 0.0737376 | 0.17729 | intron-variant | CHFR | GRCh38.p7 | 12:132879460 | cagtggcacgatctc[A/G]gctcactgcaacctc | 55743 |
rs7966176 | snp | A/G | 0.319856 | 0.240042 | intron-variant | CHFR | GRCh38.p7 | 12:132853951 | AAAGCAGAGCGCGGT[A/G]GGCAACGTACTGGGA | 55743 |
rs7966344 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | CHFR | GRCh38.p7 | 12:132878978 | CTGAGCCAACTGTGA[C/T]AGGCATTTGTTTTTt | 55743 |
rs7966694 | snp | G/T | 0.0630642 | 0.166377 | intron-variant | CHFR | GRCh38.p7 | 12:132879275 | gttgggattacaggc[G/T]tgagccaccgcacct | 55743 |
rs7969859 | snp | A/G | 0.376791 | 0.215463 | intron-variant | CHFR | GRCh38.p7 | 12:132860654 | ATAATCTTAACTTTG[A/G]CTTTCAAAGTGCAGA | 55743 |
rs7975454 | snp | C/T | 0.00447708 | 0.0471009 | synonymous-codon | CHFR | GRCh38.p7 | 12:132848720 | AGGCTGCAGGCAGAC[C/T]GCACCTGTGGAGAGA | 55743 |
rs7977432 | snp | C/T | 0.478932 | 0.10045 | intron-variant | CHFR | GRCh38.p7 | 12:132854010 | ATCACTTGTCTTTTC[C/T]ACACTTCCCTTGTAC | 55743 |
rs9630294 | snp | C/T | 0.23846 | 0.249734 | intron-variant | CHFR | GRCh38.p7 | 12:132879459 | GCAGTGGCACGATCT[C/T]AGCTCACTGCAACCT | 55743 |
rs9634239 | snp | C/T | 0.340784 | 0.232934 | intron-variant | CHFR | GRCh38.p7 | 12:132849526 | GCTCCACCACCCTAA[C/T]ACGGCTTCGATGGGC | 55743 |
rs9738468 | snp | C/T | 0.319856 | 0.240042 | intron-variant | CHFR | GRCh38.p7 | 12:132863594 | GAGGGATGCATAGCT[C/T]CCAACGGGTGGAGAT | 55743 |
rs9943702 | snp | A/G | 0.319616 | 0.240112 | intron-variant | CHFR | GRCh38.p7 | 12:132864830 | gtaatatataaataC[A/G]CTGCCCTTTTTAAGT | 55743 |
rs9943754 | snp | A/C | 0.319856 | 0.240042 | intron-variant | CHFR | GRCh38.p7 | 12:132864733 | ACCTCAGGCGATCCA[A/C]CCACCCGGCCTCCCA | 55743 |
rs9943856 | snp | A/G | 0.376197 | 0.215811 | intron-variant, missense | CHFR | GRCh38.p7 | 12:132862416 | tgggcaacacagcaa[A/G]gcaccatctctacaa | 55743 |
rs9943858 | snp | A/G | 0.0704125 | 0.17392 | intron-variant | CHFR | GRCh38.p7 | 12:132862529 | ggatcacttgagccc[A/G]ggagttcgaggctac | 55743 |
rs10573381 | in-del | -/TT | 0.352504 | 0.228019 | intron-variant | CHFR | GRCh38.p7 | 12:132846264 | TCTTTTTTTTTTTTT[-/TT]TTGAGACGGAGTCTC | 55743 |
rs10616057 | in-del | -/AA | 0 | 0 | intron-variant, upstream-variant-2KB | CHFR, LOC101928530 | GRCh38.p7 | 12:132886389 | CAAAAAAAAAAAAAA[-/AA]TTGCTTCCAAACAGC | 55743 |