SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs1051165 | snp | A/G | 0 | 0 | downstream-variant-500B, utr-variant-3-prime, intron-variant | GPBAR1, AAMP | GRCh38.p7 | 2:218264315 | CTGGTGGGCCCTTCA[A/G]AGGGAGGGGTGGACC | 14 |
rs1051182 | snp | C/T | 0 | 0 | downstream-variant-500B, utr-variant-3-prime, intron-variant | GPBAR1, AAMP | GRCh38.p7 | 2:218264198 | TCCCTTCCCAAGTCT[C/T]TGGGGGTGGAAAGGA | 14 |
rs1051183 | snp | A/G | 0 | 0 | downstream-variant-500B, utr-variant-3-prime, intron-variant | GPBAR1, AAMP | GRCh38.p7 | 2:218264178 | GGTGGAAAGGAGGAA[A/G]AGATACTAGTTAAAG | 14 |
rs1079204 | snp | A/G | 0.0529716 | 0.153882 | intron-variant | AAMP | GRCh38.p7 | 2:218265791 | GGAAGGAGAGGAGTC[A/G]GGAAAGCGGAGGCCC | 14 |
rs1246065 | snp | A/T | | | intron-variant | AAMP | GRCh38.p7 | 2:218268250 | gggattacaggcatg[A/T]gccaccgtgcctggc | 14 |
rs1457459 | snp | A/G | 0.0659589 | 0.169201 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271961 | TGACCAATATTAAAG[A/G]GAAAGGAGGAAGAAA | 14 |
rs1877713 | snp | C/T | 0.148661 | 0.22854 | upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218270290 | CCGCCACGCCCCGGC[C/T]CCATCTTCCAATGCC | 14 |
rs1877714 | snp | C/T | 0.486266 | 0.0817214 | upstream-variant-2KB, utr-variant-5-prime | PNKD, AAMP | GRCh38.p7 | 2:218270205 | CGTCGCTCTTCCTGC[C/T]GGGGAGTCGCCTACG | 14 |
rs2168701 | snp | C/T | 0 | 0 | intron-variant | AAMP | GRCh38.p7 | 2:218267237 | CCCCTTCTGTCCACT[C/T]TACACCTCTGCCCGC | 14 |
rs2168702 | snp | A/C/T | 4.94189e-05 | 0.00497062 | missense | AAMP | GRCh38.p7 | 2:218267549 | TACGAAGGCTTTGTC[A/C/T]TCTTCACCCCCGGTC | 14 |
rs2292549 | snp | A/G | 0.333261 | 0.235728 | utr-variant-3-prime, downstream-variant-500B | GPBAR1, AAMP | GRCh38.p7 | 2:218263783 | AGAGAAGTGGGGCCC[A/G]GTAGAGACAGGCTGG | 14 |
rs2305834 | snp | A/G | | | utr-variant-3-prime | AAMP | GRCh38.p7 | 2:218264417 | TGAAGAGGCTGGAAA[A/G]TCATCCAGGGCCCCA | 14 |
rs2305835 | snp | C/T | 0.0463739 | 0.145039 | missense | AAMP | GRCh38.p7 | 2:218266079 | CTTTCAGTACATGGA[C/T]AGGGCTTCCCTGCTT | 14 |
rs2305836 | snp | C/G/T | 0.00233135 | 0.034067 | intron-variant | AAMP | GRCh38.p7 | 2:218266425 | CCAGGAAAGGTCACT[C/G/T]AAGGGAGGTGCTCTC | 14 |
rs2382816 | snp | A/G | 0.077417 | 0.180873 | downstream-variant-500B, utr-variant-3-prime, intron-variant | GPBAR1, AAMP | GRCh38.p7 | 2:218264337 | GCCCACCAGGTCTGG[A/G]CAAGGGTGGGAGGGC | 14 |
rs3177984 | snp | A/G/T | 1.66746e-05 | 0.00288739 | missense | AAMP | GRCh38.p7 | 2:218265914 | GGCCCACTCACCTGT[A/G/T]TTGCTGCCAACCAGG | 14 |
rs3834139 | in-del | -/AA | 0.440884 | 0.161442 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218272166 | GTGGTTACTTAGCTT[-/AA]GAGGGGAAAACTGGG | 14 |
rs4674279 | snp | A/G | 0.441841 | 0.160303 | intron-variant | AAMP | GRCh38.p7 | 2:218268008 | GAGTCTTGCTCTGTC[A/G]CCCAGGCTGGAGTGC | 14 |
rs10193107 | snp | C/T | 0.0479149 | 0.147179 | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218268569 | ctggtcttgaactcc[C/T]gacctcaggtgatcc | 14 |
rs11559059 | snp | C/T | | | upstream-variant-2KB, synonymous-codon | PNKD, AAMP | GRCh38.p7 | 2:218270054 | AAGCGGGGCTGCTGC[C/T]GACACCCCCCCACTG | 14 |
rs11900801 | snp | C/T | 0.0733688 | 0.176922 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271207 | CCAAAGGTGCCACCT[C/T]GGTGGCGATTTTCCC | 14 |
rs12612675 | snp | A/G | 0.441841 | 0.160303 | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218268414 | cacaatctcagctca[A/G]tgcaacctctgcctc | 14 |
rs13386932 | snp | A/G | 0.0441095 | 0.141807 | intron-variant | AAMP | GRCh38.p7 | 2:218268073 | tcccaggttcaagca[A/G]ttctcctgcctcagc | 14 |
rs13419763 | snp | C/T | 0.498794 | 0.0245311 | upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218270227 | AGAGCGACGGCCGTT[C/T]GGCCAATAGCTACGA | 14 |
rs28372691 | snp | C/G | 0.0166325 | 0.0896639 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218270700 | GCAGAAAAGTGTGGG[C/G]AGGAACCAAGAGCCC | 14 |
rs28372705 | snp | C/T | 0.00211922 | 0.0324826 | upstream-variant-2KB, utr-variant-5-prime | PNKD, AAMP | GRCh38.p7 | 2:218270096 | GAAGTGGATCCGCCG[C/T]TTGCGCCGCATGGAG | 14 |
rs34118048 | snp | A/G | 0.00823072 | 0.0636209 | upstream-variant-2KB, synonymous-codon | PNKD, AAMP | GRCh38.p7 | 2:218270003 | AAGTTCTACCACCTC[A/G]ATAATCTCTTCATCA | 14 |
rs35330028 | in-del | -/G | | | intron-variant | AAMP | GRCh38.p7 | 2:218264664 | CAAGCCCACCACCTA[-/G]GGGCCCTAGGGTGGG | 14 |
rs35786918 | in-del | -/G | | | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218269761 | GAAGGGGGTGTGTGA[-/G]GGGGAAGGGCCAGAG | 14 |
rs62182823 | snp | A/G | 0.0111196 | 0.0737302 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271738 | TGGAATTGAGAAGAC[A/G]GTGGGTTTACTGTGG | 14 |
rs73086117 | snp | C/T | 0.0296074 | 0.118013 | intron-variant | AAMP | GRCh38.p7 | 2:218265510 | GGGCCTGGACTCACA[C/T]GCCCTGCCGTCCTCC | 14 |
rs73086118 | snp | C/T | 0.130694 | 0.219696 | intron-variant | AAMP | GRCh38.p7 | 2:218267106 | AAAGAGGGGCGGGAC[C/T]GAGCAGAACAGGTGC | 14 |
rs74349235 | snp | C/T | 0.0513214 | 0.151746 | intron-variant | AAMP | GRCh38.p7 | 2:218267658 | GGACAGAGCTCCCAC[C/T]TAGGGCTCTGTCCTT | 14 |
rs74478311 | snp | A/G | 0 | 0 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271625 | TTAGAAACTTCTCCA[A/G]GTTTCAGGTGGCGAG | 14 |
rs74589966 | snp | C/G/T | 0.0178228 | 0.0928074 | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218269668 | ACACACCGGGGTCCG[C/G/T]GGGGGCGCGCGGGAC | 14 |
rs76417156 | snp | G/T | 0 | 0 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271626 | TAGAAACTTCTCCAA[G/T]TTTCAGGTGGCGAGC | 14 |
rs77115694 | snp | C/T | 0.0490535 | 0.14873 | utr-variant-3-prime, downstream-variant-500B | GPBAR1, AAMP | GRCh38.p7 | 2:218263792 | CTCTACCGGGCCCCA[C/T]TTCTCTGGATCAGAG | 14 |
rs77958847 | snp | C/T | 0.000399281 | 0.0141238 | synonymous-codon | AAMP | GRCh38.p7 | 2:218266907 | CACCTGCCACACTTT[C/T]AAGAGGCCACTCATG | 14 |
rs78759491 | snp | C/T | 0.0168055 | 0.0901129 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271114 | GCAGTCCTTCCCATG[C/T]TGTCGTCTGAGGAAG | 14 |
rs79234379 | snp | C/T | 0.00438332 | 0.0466095 | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218269246 | TCTGCCACACTTTCC[C/T]ACCTGTGGGCTCCTC | 14 |
rs111615429 | snp | G/T | 0.5 | 0 | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218268715 | TTTTTTTTTTTTTTT[G/T]GGAGACAGACTCTCA | 14 |
rs111705207 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | AAMP | GRCh38.p7 | 2:218266643 | CATCCCACCTAGAAG[C/T]CTGCCCCATGAGCTC | 14 |
rs112909351 | snp | A/G | 0.5 | 0 | intron-variant | AAMP | GRCh38.p7 | 2:218266400 | ATATCCCGGGATTCG[A/G]CCTCTGCACCCAGGA | 14 |
rs113812614 | snp | A/G | 0.5 | 0 | intron-variant | AAMP | GRCh38.p7 | 2:218266759 | CTCAGAGCTGGCTTG[A/G]CGCAATAAAGGCAGA | 14 |
rs115942379 | snp | A/G | 0.038325 | 0.133018 | intron-variant | AAMP | GRCh38.p7 | 2:218265182 | ATGCCCGACTGCCCC[A/G]AGGAATGACAGAGGC | 14 |
rs116771035 | snp | A/T | 0.00159617 | 0.0282053 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271845 | AGTTTAAGTAAGTAG[A/T]TCGTTGAGATCATGT | 14 |
rs117369613 | snp | C/G | 0.0158469 | 0.0875917 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271251 | TTCTCCTTGGCACTT[C/G]TTACTTCAGACTGCA | 14 |
rs117888559 | snp | A/G | 0.0166325 | 0.0896639 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218272069 | CCCCATTTCACAGAG[A/G]AAGGAACTGAGACTG | 14 |
rs121434511 | snp | C/T | | | missense, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218270561 | TGGTAGCTGCTACGG[C/T]GCTGAAGGGCCGGGG | 14 |
rs121434512 | snp | C/T | | | missense, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218270555 | CGGCGGTGGTAGCTG[C/T]TACGGCGCTGAAGGG | 14 |
rs121434513 | snp | C/G/T | 0.00149962 | 0.0273419 | PNKD, AAMP | 2 | allele_origin=G(germline)/C(germline) | 2:218271410 | GCCACAGCTAACAAG[C/G/T]CTTCTCATAACAGGA | 14 |
rs137939808 | snp | A/G | 9.91883e-05 | 0.00704161 | upstream-variant-2KB, missense | PNKD, AAMP | GRCh38.p7 | 2:218269525 | TCTTCCATCTCCTGG[A/G]CCAGGTCATCTGCTT | 14 |
rs138049376 | snp | A/G | 0.000399281 | 0.0141238 | downstream-variant-500B | GPBAR1, AAMP | GRCh38.p7 | 2:218264051 | TCCAGCCGATTCTGC[A/G]GGACAGCCTTGCCCT | 14 |
rs138058625 | snp | A/T | 0.000197658 | 0.00993931 | missense | AAMP | GRCh38.p7 | 2:218266900 | TAGTGTCCACCTGCC[A/T]CACTTTCAAGAGGCC | 14 |
rs138669545 | snp | A/G | 0.0146672 | 0.084371 | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218269123 | CAGGAGTGAGCCACC[A/G]CGCCCGGCCAAAGAT | 14 |
rs138734332 | snp | C/G | 0.00127048 | 0.0251719 | intron-variant | AAMP | GRCh38.p7 | 2:218264980 | ACTACTGCCACCTTC[C/G]AAATACACAAAGATC | 14 |
rs139083943 | snp | A/G | 0.000928936 | 0.0215315 | missense | AAMP | GRCh38.p7 | 2:218265173 | AGCTGCACGATGCCC[A/G]ACTGCCCCGAGGAAT | 14 |
rs139262326 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271012 | AGGGATGGAGTAGAC[C/T]ATCTTTAAGGTCCCT | 14 |
rs139365594 | snp | A/G/T | 0.0103295 | 0.0711199 | intron-variant | AAMP | GRCh38.p7 | 2:218267677 | GGCTCTGTCCTTCAC[A/G/T]ATCTTCAGGAAACCC | 14 |
rs140247601 | in-del | -/GTTTTTT | 0.046775 | 0.145601 | intron-variant | AAMP | GRCh38.p7 | 2:218267959 | AGCATCACGTTAAGG[-/GTTTTTT]GTTTTTTGTTTTTTG | 14 |
rs140509699 | snp | A/G | 6.58913e-05 | 0.00573945 | synonymous-codon | AAMP | GRCh38.p7 | 2:218267561 | GTCATCTTCACCCCC[A/G]GTCACTGCCAAGGTA | 14 |
rs140610263 | snp | C/T | 0.000365691 | 0.0135171 | synonymous-codon | AAMP | GRCh38.p7 | 2:218266510 | CTTGCAGTCACCATT[C/T]GGGACTTTCCACATC | 14 |
rs140903641 | snp | A/C | 0.00438332 | 0.0466095 | upstream-variant-2KB, utr-variant-5-prime | PNKD, AAMP | GRCh38.p7 | 2:218270142 | CTCCCAGAGTCAGCT[A/C]TGCGCGACGACGCGG | 14 |
rs141066524 | snp | A/T | 0.00199481 | 0.0315187 | intron-variant | AAMP | GRCh38.p7 | 2:218267925 | GGGATGCCACCGGGG[A/T]TGGGTACAGAGCGAG | 14 |
rs141322497 | snp | A/G | 0.000402205 | 0.0141754 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271582 | CTTTGCCCACCAACG[A/G]GGCGTGGCTTGTAGG | 14 |
rs141356609 | snp | C/T | 0.000724829 | 0.0190234 | upstream-variant-2KB, missense | PNKD, AAMP | GRCh38.p7 | 2:218269498 | TCCTCCTCTTCTTCC[C/T]CAAAGTCCACATCTT | 14 |
rs141536817 | snp | A/G | 0.00148694 | 0.0272261 | intron-variant | AAMP | GRCh38.p7 | 2:218264990 | CCTTCCAAATACACA[A/G]AGATCCCAGCCCTTG | 14 |
rs141898578 | snp | A/G | 0.00266535 | 0.0364084 | upstream-variant-2KB, missense | PNKD, AAMP | GRCh38.p7 | 2:218269393 | CTACCTGAGTGCAAT[A/G]CAAAGGTGACCTCGC | 14 |
rs143078100 | in-del | -/G | 0.0103295 | 0.0711199 | upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218270288 | GCGGCATTGGAAGAT[-/G]GGGCCGGGGCGTGGC | 14 |
rs143370367 | snp | C/T | 1.65072e-05 | 0.00287286 | upstream-variant-2KB, synonymous-codon | PNKD, AAMP | GRCh38.p7 | 2:218270030 | ATCACCATGGAAGCT[C/T]AGGGTCTCCAGTGGG | 14 |
rs143513606 | snp | C/G | 1.64757e-05 | 0.00287012 | missense | AAMP | GRCh38.p7 | 2:218267512 | CACACTCAAAGAGCA[C/G]CTCCCCATCGCTGAG | 14 |
rs143721443 | snp | C/T | 0.0023933 | 0.0345097 | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218268405 | GCGCAGTGGCACAAT[C/T]TCAGCTCAATGCAAC | 14 |
rs143767549 | snp | C/G | 0.00279162 | 0.0372561 | utr-variant-3-prime, downstream-variant-500B | GPBAR1, AAMP | GRCh38.p7 | 2:218263773 | GCTCAGCCATCCAGC[C/G]TGTCTCTACCGGGCC | 14 |
rs144370433 | snp | C/T | 0.000494177 | 0.0157113 | synonymous-codon | AAMP | GRCh38.p7 | 2:218264584 | TTTGTGGTCTCCTGA[C/T]GTGGTCACCACCAGG | 14 |
rs144527146 | snp | A/G | 6.66134e-05 | 0.00577081 | synonymous-codon | AAMP | GRCh38.p7 | 2:218265891 | GCCAGTTAGGATCAA[A/G]CTGCCATCCTGGTTG | 14 |
rs144728691 | snp | C/T | 0.00517822 | 0.0506191 | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218269021 | TATTTTTAGTAGAGA[C/T]TGGGTTTTGCCATGT | 14 |
rs144916589 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | AAMP | GRCh38.p7 | 2:218267938 | GGTTGGGTACAGAGC[A/G]AGGAGAGCATCACGT | 14 |
rs144953135 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218270316 | GGCGGAGAGAACCCA[A/G]ACTCCGCCCCACCTG | 14 |
rs145050655 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271780 | TTGATCTGATTCAGA[C/T]TTGGGTCCCTGGCCT | 14 |
rs145249885 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271297 | CAGATCTCAGCCGCT[C/G]CTCCCAAGCCCTTAC | 14 |
rs145266923 | in-del | -/G | | | frameshift-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218270543 | TCTGAACATGGCGGC[-/G]GGTGGTAGCTGCTAC | 14 |
rs145508047 | snp | C/T | 0.00517822 | 0.0506191 | intron-variant | AAMP | GRCh38.p7 | 2:218267862 | CACCCAACACCAATG[C/T]CATGGACAAGAGGTG | 14 |
rs145888617 | snp | A/C/G/T | 0.000148669 | 0.00862075 | upstream-variant-2KB, missense | PNKD, AAMP | GRCh38.p7 | 2:218270044 | TTAGGGTCTCCAGTG[A/C/G/T]GGGGGTGTCAGCAGC | 14 |
rs146016925 | snp | A/C | 1.64893e-05 | 0.0028713 | missense, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271414 | CAGCTAACAAGGCTT[A/C]TCATAACAGGACCCG | 14 |
rs146035270 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | AAMP | GRCh38.p7 | 2:218264908 | ACCCTCAGGCTTCTC[C/T]GCATTCCTGCCTTAG | 14 |
rs146100906 | snp | C/T | 6.5962e-05 | 0.00574253 | synonymous-codon, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271502 | GGAGCTGGAATACAT[C/T]CCCAGAAAGAGGGGC | 14 |
rs146196986 | snp | A/G | 0.00123028 | 0.0247715 | missense | AAMP | GRCh38.p7 | 2:218265060 | CAGCCGTGTGGCCCC[A/G]GTAGTCAGTAAGCAG | 14 |
rs146569697 | snp | G/T | 1.64727e-05 | 0.00286986 | upstream-variant-2KB, synonymous-codon | PNKD, AAMP | GRCh38.p7 | 2:218269419 | CTCGCTATCGTCGGG[G/T]CCCTCCATGCTGCCG | 14 |
rs147309598 | snp | A/T | 0.00438332 | 0.0466095 | upstream-variant-2KB, utr-variant-5-prime | PNKD, AAMP | GRCh38.p7 | 2:218270141 | CCTCCCAGAGTCAGC[A/T]CTGCGCGACGACGCG | 14 |
rs147745631 | snp | A/C/G | 0.00914312 | 0.0669923 | intron-variant | AAMP | GRCh38.p7 | 2:218267867 | AACACCAATGCCATG[A/C/G]ACAAGAGGTGGGGAC | 14 |
rs148400911 | snp | A/G | 4.95233e-05 | 0.00497586 | intron-variant | AAMP | GRCh38.p7 | 2:218266182 | AAGAGAGGGCAGAGG[A/G]CACGCTCACATACAC | 14 |
rs148625186 | snp | C/G | 0.000399281 | 0.0141238 | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218269832 | TAAGTGTGAGGGTGG[C/G]AGTGGGGGAGGAGGG | 14 |
rs148721412 | snp | A/T | 0.000181215 | 0.00951706 | synonymous-codon | AAMP | GRCh38.p7 | 2:218266071 | TCTGATACCTTTCAG[A/T]ACATGGATAGGGCTT | 14 |
rs149305378 | snp | C/G/T | 0.000198239 | 0.00995419 | upstream-variant-2KB, synonymous-codon | PNKD, AAMP | GRCh38.p7 | 2:218270045 | TAGGGTCTCCAGTGG[C/G/T]GGGGTGTCAGCAGCA | 14 |
rs149447794 | snp | A/G | 0.000334103 | 0.0129205 | upstream-variant-2KB, intron-variant | PNKD, AAMP | GRCh38.p7 | 2:218269646 | CGAGAAGGGAAGGTG[A/G]AGTCAGACACACCGG | 14 |
rs149502890 | snp | C/T | 0.00468451 | 0.0481696 | synonymous-codon | AAMP | GRCh38.p7 | 2:218264566 | GACACAAAATACTTT[C/T]GCTTTGTGGTCTCCT | 14 |
rs149973076 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant, upstream-variant-2KB | PNKD, AAMP | GRCh38.p7 | 2:218271076 | TCCCGGATTTCCTTC[A/G]TACGTCTTATGTGAG | 14 |
rs150276046 | snp | C/T | 6.76727e-05 | 0.00581651 | missense | AAMP | GRCh38.p7 | 2:218266568 | AACAGGACAGGTGCC[C/T]GAGGATGCCACTCCA | 14 |
rs150307616 | snp | C/T | 0.000115535 | 0.00759963 | upstream-variant-2KB, missense | PNKD, AAMP | GRCh38.p7 | 2:218270029 | CATCACCATGGAAGC[C/T]TAGGGTCTCCAGTGG | 14 |
rs150372866 | snp | C/T | 0.00278026 | 0.0371807 | upstream-variant-2KB, missense | PNKD, AAMP | GRCh38.p7 | 2:218269394 | TACCTGAGTGCAATG[C/T]AAAGGTGACCTCGCT | 14 |