SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs13239 | snp | A/T | 0.0777841 | 0.181223 | utr-variant-3-prime, intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231364531 | ACTATCACTTTCTCC[A/T]GCAAATTCTCCTAAG | 83932 |
rs191867 | snp | C/G | 0.0271762 | 0.113356 | utr-variant-3-prime, intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231364176 | TATCTGTGGGTTGTG[C/G]TTGCCAGACAGGTCT | 83932 |
rs203741 | snp | A/G | 0.0275645 | 0.114116 | intron-variant | SPRTN | GRCh38.p7 | 1:231349165 | tttttttttttagag[A/G]cagggtctcaccatg | 83932 |
rs203742 | snp | C/T | 0.140581 | 0.224783 | utr-variant-3-prime, intron-variant | SPRTN | GRCh38.p7 | 1:231352247 | TATGGAAAGACCGTA[C/T]CTTCATTTTCGTGAG | 83932 |
rs203743 | snp | C/G | 0.140581 | 0.224783 | utr-variant-3-prime, intron-variant | SPRTN | GRCh38.p7 | 1:231352339 | CTAAGCAATTTTCAA[C/G]GTAAATGTTGCCTTG | 83932 |
rs203744 | snp | A/G | 0.140242 | 0.224618 | utr-variant-3-prime | SPRTN | GRCh38.p7 | 1:231353793 | CATAGTGTCAGACAT[A/G]CTGACCAAAACCACA | 83932 |
rs203752 | snp | A/G | 0.0614824 | 0.164198 | intron-variant | SPRTN | GRCh38.p7 | 1:231340290 | aagctccgcctcctc[A/G]gttcatgccattctc | 83932 |
rs722302 | snp | A/C | 0.499187 | 0.0201513 | intron-variant | SPRTN | GRCh38.p7 | 1:231344406 | CAGCTGCTCAGGAGG[A/C]TGAGATAGAGGGATC | 83932 |
rs849805 | snp | C/G | 0.0275645 | 0.114116 | | | GRCh38.p7 | 1:231356316 | ctcctaacctcaagt[C/G]atctgtctgccctcg | 83932 |
rs910822 | snp | A/G | 0.499866 | 0.0081858 | intron-variant | LOC107985360 | GRCh38.p7 | 1:231362975 | TATTCAAAGCTCATT[A/G]CCCCAATTTTCTCTC | 83932 |
rs910823 | snp | G/T | 0.499872 | 0.0079862 | intron-variant | LOC107985360 | GRCh38.p7 | 1:231363020 | ATCATATTGTTAAAG[G/T]AAAGGGCAATAATCC | 83932 |
rs910824 | snp | C/G | 0.499872 | 0.0079862 | intron-variant | LOC107985360 | GRCh38.p7 | 1:231363027 | TGTTAAAGGAAAGGG[C/G]AATAATCCTCGTTGA | 83932 |
rs999010 | snp | A/G | 0.498437 | 0.0279115 | nc-transcript-variant | LOC107985360 | GRCh38.p7 | 1:231359570 | TCTAATTTCACGTTA[A/G]TTTTTATTTCTGCAA | 83932 |
rs1009227 | snp | C/T | 0.472684 | 0.113631 | intron-variant | SPRTN | GRCh38.p7 | 1:231344761 | TTGCTCtaaaaaata[C/T]aaataatttttttaa | 83932 |
rs1061065 | snp | A/T | 0 | 0 | intron-variant, upstream-variant-2KB | SPRTN, EXOC8 | GRCh38.p7 | 1:231339871 | GGATCTTGTAGAGGT[A/T]TTTTTCGTGTAAACT | 83932 |
rs1076804 | snp | C/T | 0.499866 | 0.0081858 | intron-variant | LOC107985360 | GRCh38.p7 | 1:231362714 | ATATTTATAAACTAA[C/T]TGAAAAAATCCAACA | 83932 |
rs1122131 | snp | A/G | 0.49706 | 0.0382258 | intron-variant | SPRTN | GRCh38.p7 | 1:231340755 | gtgagccgagaccgt[A/G]ccattgcattccagc | 83932 |
rs1435166 | snp | A/G | 0.498346 | 0.0287064 | intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231366564 | GTTGAAATATTGTCC[A/G]TACTCTTAGGAATTC | 83932 |
rs1435167 | snp | A/T | 0.488637 | 0.0745131 | intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231366499 | AGTGAATGAATGAAA[A/T]TTTTTTTTTTTTTTA | 83932 |
rs1465740 | snp | A/T | 0.499451 | 0.0165644 | nc-transcript-variant | LOC107985360 | GRCh38.p7 | 1:231359509 | AGGGGGGGAAAAAAC[A/T]GAGGAAGCTGAGAAA | 83932 |
rs1984914 | snp | A/C | | | intron-variant | SPRTN | GRCh38.p7 | 1:231340825 | gaaagaaTTATCTGT[A/C]CAAAAGAGCACAGTG | 83932 |
rs2009873 | snp | A/G | 0.499859 | 0.0083854 | downstream-variant-500B, intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231363490 | ATTCTTGCCCTTTTA[A/G]TAGGATTTTTAAAAT | 83932 |
rs2011357 | snp | C/T | 0.492237 | 0.0618148 | intron-variant | SPRTN | GRCh38.p7 | 1:231344462 | tggagtgcagtggca[C/T]gattatatttcactg | 83932 |
rs2011383 | snp | A/T | 0.499187 | 0.0201513 | intron-variant | SPRTN | GRCh38.p7 | 1:231344042 | GGTACTGAACTTTTT[A/T]AATATCTATCATTTT | 83932 |
rs2066140 | snp | C/G | 0.499908 | 0.00678851 | intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231368565 | CCCCATTATTTGTAT[C/G]AGAAAGTATGTCTTT | 83932 |
rs2246645 | snp | A/C | 0.499879 | 0.0077866 | intron-variant | LOC107985360 | GRCh38.p7 | 1:231361647 | CCACCCATTAGTTTA[A/C]ATAATATAATTGGAT | 83932 |
rs2247124 | snp | A/G | 0.499722 | 0.0117779 | upstream-variant-2KB | LOC107985360 | GRCh38.p7 | 1:231357941 | CAGAAGCAAGGTGCC[A/G]TTTGTTTTCTTCAGT | 83932 |
rs2247132 | snp | A/G | 0.499853 | 0.008585 | upstream-variant-2KB | LOC107985360 | GRCh38.p7 | 1:231357613 | GGTATTGCATTAATC[A/G]TGATCCAATGGTTTC | 83932 |
rs2250704 | snp | A/G | 0.498034 | 0.0312882 | intron-variant | SPRTN | GRCh38.p7 | 1:231350901 | ATAGGGAAAACTTCA[A/G]TTTAGCAGTGGGAAT | 83932 |
rs2250719 | snp | A/G | 0.49681 | 0.0398085 | intron-variant | SPRTN | GRCh38.p7 | 1:231350462 | CCTCTTTTCAGTCAG[A/G]TCTTTTCCCTTACCT | 83932 |
rs2250734 | snp | A/G | 0.498734 | 0.0251279 | intron-variant | SPRTN | GRCh38.p7 | 1:231350212 | GGATGGAGCGATAGT[A/G]AGTTTAAAACTATCT | 83932 |
rs2250749 | snp | C/G | 0.498693 | 0.0255257 | intron-variant | SPRTN | GRCh38.p7 | 1:231350017 | GTCCATGTCACAGAA[C/G]AAACAAACAAAACAG | 83932 |
rs2256908 | snp | C/T | 0.499897 | 0.00718776 | intron-variant | EGLN1 | GRCh38.p7 | 1:231370811 | CATACTTTATTGAGA[C/T]GTATTTGTGAATAAT | 83932 |
rs2295420 | snp | C/T | 0.497984 | 0.0316851 | intron-variant | SPRTN | GRCh38.p7 | 1:231349894 | GCTCACGCCTGTATT[C/T]GCGGCTACTCGAGAG | 83932 |
rs2295421 | snp | C/G | 0.000798403 | 0.0199641 | upstream-variant-2KB | LOC107985360 | GRCh38.p7 | 1:231358464 | TAAGTGAATGTTAGG[C/G]CTGGGTATTCTCATG | 83932 |
rs2295422 | snp | C/T | 0.000798403 | 0.0199641 | upstream-variant-2KB | LOC107985360 | GRCh38.p7 | 1:231358465 | AAGTGAATGTTAGGG[C/T]TGGGTATTCTCATGT | 83932 |
rs2355870 | snp | C/T | | | intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231367134 | TAATACAAAGAATTA[C/T]GAATTCAAATGCCAA | 83932 |
rs2355871 | snp | A/G | 0 | 0 | intron-variant | LOC107985360 | GRCh38.p7 | 1:231363156 | TTTGAGATGAAGTTT[A/G]AGATGTGCTTTTTTA | 83932 |
rs2355872 | snp | A/T | 0.494272 | 0.053207 | intron-variant | SPRTN | GRCh38.p7 | 1:231342743 | atctcaaaaaaaaaa[A/T]aaataaatatagtcc | 83932 |
rs2355873 | snp | C/T | 0.489376 | 0.0721049 | intron-variant | SPRTN | GRCh38.p7 | 1:231341696 | cccagccTGAttgta[C/T]attctttttgcttct | 83932 |
rs2437149 | snp | A/G | 0.492188 | 0.0620098 | utr-variant-3-prime | SPRTN | GRCh38.p7 | 1:231354359 | CTTGTGAACAACTGT[A/G]TTAGGGCTATGCCAA | 83932 |
rs2437150 | snp | A/G | 0.480479 | 0.0968479 | utr-variant-3-prime, missense | SPRTN | GRCh38.p7 | 1:231352778 | TTGATTTTAGAATTA[A/G]GTCTTACAGCATTTG | 83932 |
rs2472261 | snp | C/T | 0.492287 | 0.0616198 | intron-variant, downstream-variant-500B | EGLN1, LOC107985360 | GRCh38.p7 | 1:231369955 | TTTAGTGCTTTATTT[C/T]AAATGCTTTTTTAAA | 83932 |
rs2474632 | snp | C/T | 0.499965 | 0.00419314 | intron-variant | SPRTN | GRCh38.p7 | 1:231348615 | CTGCCTGTGTCCTGT[C/T]TCTTTAACTGCACTT | 83932 |
rs2474633 | snp | A/C | 0.492287 | 0.0616198 | intron-variant | SPRTN | GRCh38.p7 | 1:231351243 | AAGACTGCTTATGTA[A/C]ATTGTTTTCTTGCAG | 83932 |
rs2474634 | snp | C/T | 0.475467 | 0.108002 | intron-variant | SPRTN | GRCh38.p7 | 1:231351271 | CAGTTGTTAACTTGC[C/T]TATTGAATACTAAAA | 83932 |
rs2474635 | snp | A/G | 0.499853 | 0.008585 | | | GRCh38.p7 | 1:231356222 | GCTGGGATTAAAGGC[A/G]AGCGCCACCACACCT | 83932 |
rs2486745 | snp | A/G | 0.499908 | 0.00678851 | intron-variant, downstream-variant-500B | EGLN1, LOC107985360 | GRCh38.p7 | 1:231369971 | TTTGCAACCTATTAT[A/G]TTTAGTGCTTTATTT | 83932 |
rs2486746 | snp | C/T | 0.497387 | 0.0360476 | intron-variant | LOC107985360 | GRCh38.p7 | 1:231361578 | cctaacttctccaca[C/T]ggcagatCTCTCTCC | 83932 |
rs2491402 | snp | C/T | 0.491834 | 0.0633738 | upstream-variant-2KB | LOC107985360 | GRCh38.p7 | 1:231358592 | AATACTCTTGAGACC[C/T]AAATCATTTCCAGGT | 83932 |
rs2572260 | snp | A/G | 0.49681 | 0.0398085 | | | GRCh38.p7 | 1:231350443 | ACTGAAAAGAGGGTC[A/G]GCCCTCCCAGCATGG | 83932 |
rs2572262 | snp | C/G | | | | | GRCh38.p7 | 1:231362149 | AGTGGTAGAGAGCCA[C/G]GAATTGAGTGTGAGC | 83932 |
rs2739516 | snp | C/T | 0.499908 | 0.00678851 | intron-variant, nc-transcript-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231369781 | CTGATAGTGAGCTTC[C/T]GGCATTCATTTGCTG | 83932 |
rs2749716 | snp | C/T | 0.492237 | 0.0618148 | intron-variant | SPRTN | GRCh38.p7 | 1:231351162 | AGTTGCTTTCTCTCC[C/T]AAAATAGAACTTTTC | 83932 |
rs2749717 | snp | G/T | 0.492918 | 0.0590819 | utr-variant-3-prime | SPRTN | GRCh38.p7 | 1:231353607 | GCCTGTCGTGTATAA[G/T]TTTTAGATACTTTTG | 83932 |
rs2749718 | snp | A/G | 0.499831 | 0.00918375 | | | GRCh38.p7 | 1:231356525 | cggatcacgaggtca[A/G]gagatcgagaccatc | 83932 |
rs2749719 | snp | C/T | 0.499767 | 0.0107802 | | | GRCh38.p7 | 1:231356562 | aacgtggtgaaaccc[C/T]gtctctactaaaaat | 83932 |
rs2749720 | snp | A/G | 0.499853 | 0.008585 | | | GRCh38.p7 | 1:231356599 | aattagccgggcgtg[A/G]tggcaagtgcctgta | 83932 |
rs2749721 | snp | C/G | 0.492137 | 0.0622048 | | | GRCh38.p7 | 1:231356657 | gaagaatcgcttgaa[C/G]ctgggtagcggaggt | 83932 |
rs2749722 | snp | C/T | 0.499846 | 0.00878459 | | | GRCh38.p7 | 1:231357151 | TCGAGACCATCCTGG[C/T]CCACATGGTGAAACC | 83932 |
rs2749723 | snp | A/G | 0.498415 | 0.0281103 | upstream-variant-2KB | LOC107985360 | GRCh38.p7 | 1:231357556 | TTTCTGGGTGCGTGC[A/G]GTGTCAGCTCTTTTT | 83932 |
rs2790894 | snp | A/T | 0.497387 | 0.0360476 | intron-variant, nc-transcript-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231369841 | GAAAAATAGCACATT[A/T]AAAAAAAATACTTAT | 83932 |
rs2790896 | snp | C/T | 0.498415 | 0.0281103 | nc-transcript-variant | LOC107985360 | GRCh38.p7 | 1:231360342 | AAATCCAACtttgtc[C/T]ttttttttttttttt | 83932 |
rs2790897 | snp | A/C | 0.499784 | 0.0103811 | | | GRCh38.p7 | 1:231355966 | CCCTTTTAAAGCCAA[A/C]TTCCCAACTTAGAAG | 83932 |
rs2808577 | snp | C/T | 0.499891 | 0.00738737 | upstream-variant-2KB | LOC107985360 | GRCh38.p7 | 1:231358861 | GCAACATGGTGAAAC[C/T]CCGTTTCTACTAAAA | 83932 |
rs2808606 | snp | A/G | | | synonymous-codon | SPRTN | GRCh38.p7 | 1:231351459 | GTGGGCTGAGCACCA[A/G]AAAACCTGTGGAGGC | 83932 |
rs3071924 | in-del | -/AAGT | 0.499928 | 0.00598999 | intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231368491 | TGAAATATTCTAAGT[-/AAGT]CAGATTTTCAGAAAA | 83932 |
rs3071944 | in-del | -/TT | | | intron-variant, upstream-variant-2KB | SPRTN | GRCh38.p7 | 1:231346942 | AAAACTTTAAAATTC[-/TT]TTTTTTTTTTGAGAC | 83932 |
rs3071948 | in-del | -/TTAA | 0.0444908 | 0.142359 | intron-variant | SPRTN | GRCh38.p7 | 1:231342413 | taaataaaTAAATAa[-/TTAA]aaatatggtcttata | 83932 |
rs3071954 | in-del | -/T/TT/TTT | 0.5 | 0 | intron-variant | SPRTN | GRCh38.p7 | 1:231340047 | GTTTTTTTTTTTTTT[-/T/TT/TTT]ACTATGAAGCACTAT | 83932 |
rs3215624 | in-del | -/A | 0.499859 | 0.0083854 | upstream-variant-2KB | LOC107985360 | GRCh38.p7 | 1:231357852 | AATGTTAGAAGTTAT[-/A]ATGATTACATATTTC | 83932 |
rs3215625 | in-del | -/C/T | | | utr-variant-3-prime, intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231364614 | CTACACAATTTTTTT[-/C/T]CCATGTTTTACATGA | 83932 |
rs3830910 | in-del | -/TCAG | | | intron-variant | SPRTN | GRCh38.p7 | 1:231350831 | TGTTGTTAGCGTCAG[-/TCAG]GCATTTATAGGGAGT | 83932 |
rs4394638 | snp | A/G | 0.0333695 | 0.124785 | intron-variant | SPRTN | GRCh38.p7 | 1:231343951 | AGTTCATTTTAACCC[A/G]ATAGAACAGTCATGG | 83932 |
rs4486439 | snp | C/T | 0.499995 | 0.00159744 | intron-variant | SPRTN | GRCh38.p7 | 1:231341724 | gggtgcggtggctca[C/T]gcccataatcccagc | 83932 |
rs5781637 | in-del | -/A | 0.5 | 0 | intron-variant | SPRTN | GRCh38.p7 | 1:231340799 | TCTCAAAAAAAAAAA[-/A]GAAAGAATTATCTGT | 83932 |
rs5781638 | in-del | -/G | 0.499846 | 0.00878459 | nc-transcript-variant | LOC107985360 | GRCh38.p7 | 1:231359511 | CTCAGCTTCCTCTGT[-/G]TTTTTCCCCCCCTTT | 83932 |
rs5781639 | in-del | -/T | 0 | 0 | intron-variant | LOC107985360 | GRCh38.p7 | 1:231361743 | TACTTTTTTTTTTTT[-/T]AATTAAGAATTTTTA | 83932 |
rs6670024 | snp | C/T | 0.0825414 | 0.185628 | intron-variant | EGLN1 | GRCh38.p7 | 1:231370854 | AATTTTAAAAGTATA[C/T]GCACTGATGCAAGGA | 83932 |
rs6675448 | snp | A/G | 0.0372196 | 0.131242 | intron-variant | SPRTN | GRCh38.p7 | 1:231340190 | acacggtgaaacccc[A/G]tctctacaaaaaaaa | 83932 |
rs6678861 | snp | A/G | 0 | 0 | intron-variant | SPRTN | GRCh38.p7 | 1:231341057 | TAAAGTGGTACAGTA[A/G]AAATACTTGATTAAT | 83932 |
rs6679083 | snp | A/G | 0 | 0 | intron-variant | SPRTN | GRCh38.p7 | 1:231341237 | agtttaaaaggatga[A/G]gaaaagtaatcatcc | 83932 |
rs6699759 | snp | C/T | 0.0322114 | 0.122752 | intron-variant, nc-transcript-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231369595 | CTGCTTAGCTTGCTA[C/T]TCAGTACGTGAATTA | 83932 |
rs7414807 | snp | A/G | 0.493568 | 0.0563433 | intron-variant | SPRTN | GRCh38.p7 | 1:231341128 | GTAAACAAaatatca[A/G]ttaaatgtaagtgga | 83932 |
rs7522765 | snp | A/C | 0.0298908 | 0.118541 | intron-variant | SPRTN | GRCh38.p7 | 1:231349985 | ccacctcactccagc[A/C]tgggcaaacagagca | 83932 |
rs7531723 | snp | C/G | | | utr-variant-3-prime, intron-variant | SPRTN | GRCh38.p7 | 1:231352458 | GAATTCTGAAGATTG[C/G]CCTCCTCCCATTAAT | 83932 |
rs7533267 | snp | A/T | 0.0551013 | 0.156571 | intron-variant | SPRTN | GRCh38.p7 | 1:231348684 | GGCGTGCCACTGCTC[A/T]GTTTTGTGTCCGAAT | 83932 |
rs7550833 | snp | A/G | 0.078151 | 0.181571 | utr-variant-3-prime, intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231365422 | CACTTTAGTTTTTTA[A/G]AAAATTTAACTTAAA | 83932 |
rs11122273 | snp | A/G | 0.5 | 0.00019968 | intron-variant | SPRTN | GRCh38.p7 | 1:231341043 | GTAGCTACTAAATGT[A/G]AAGTGGTACAGTAGA | 83932 |
rs11122274 | snp | G/T | | | intron-variant, upstream-variant-2KB | SPRTN | GRCh38.p7 | 1:231346510 | CTGTGAACTCCATGG[G/T]CTTTGCCCATTTTGA | 83932 |
rs11386615 | in-del | -/T | 0.5 | 0 | utr-variant-3-prime, intron-variant | EGLN1, LOC107985360 | GRCh38.p7 | 1:231364608 | GGCTTCACTACACAA[-/T]TTTTTTTCCATGTTT | 83932 |
rs11413090 | in-del | -/A | | | | | GRCh38.p7 | 1:231357324 | AAAAAAAAAAAAAAA[-/A]GAAAATTTTGTTTTG | 83932 |
rs11436079 | in-del | -/T | 0.495963 | 0.0447464 | downstream-variant-500B | SPRTN | GRCh38.p7 | 1:231355073 | TTTCATAGAGGATCA[-/T]TTTCTCTAAATGAAT | 83932 |
rs11587087 | snp | C/T | | | intron-variant | SPRTN | GRCh38.p7 | 1:231348527 | TAGCCCAATCTGACA[C/T]TAATTAAATATTAGT | 83932 |
rs11808993 | snp | A/C/G | 0.00199481 | 0.0315187 | intron-variant | EGLN1 | GRCh38.p7 | 1:231370732 | ATGTAAGCAGGAGTA[A/C/G]CCAAAAATGCTACAA | 83932 |
rs12035048 | snp | A/T | | | | | GRCh38.p7 | 1:231357183 | catctctactaaaaa[A/T]aaaaaaattagctac | 83932 |
rs12039031 | snp | C/T | | | intron-variant, upstream-variant-2KB | SPRTN | GRCh38.p7 | 1:231346040 | ggctggttttgaact[C/T]ctggcctcgagcaat | 83932 |
rs12066670 | snp | A/C | | | intron-variant | SPRTN | GRCh38.p7 | 1:231340065 | AAAAAAAAAAAACAA[A/C]AAAAAGGCttctagg | 83932 |
rs12069991 | snp | G/T | | | intron-variant, upstream-variant-2KB | SPRTN | GRCh38.p7 | 1:231346381 | ttttttttttttttg[G/T]attttagtagagaca | 83932 |
rs12074025 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | SPRTN | GRCh38.p7 | 1:231341738 | acgcccataatccca[A/G]cactttgggaagctg | 83932 |