SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs36717 | snp | C/T | 0.25045 | 0.25 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16460241 | GTTGGAGTGCAGTGG[C/T]GCCATCACGGCTCAC | 58513 |
rs36718 | snp | C/T | 0.234692 | 0.249531 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16457480 | TGGCAAGCCTGTCTC[C/T]GGCACTGCTTTGGTG | 58513 |
rs36719 | snp | G/T | 0.234109 | 0.249494 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16456956 | GGCACCCCCTCCCCA[G/T]GTTCTGCTTGCCCTG | 58513 |
rs36720 | snp | A/G | 0.4776 | 0.103433 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16456540 | cctcccaagtagctg[A/G]gattacaggtacccg | 58513 |
rs36721 | snp | A/G | 0.239326 | 0.249772 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16455090 | CCAGGCTGGAGTGCA[A/G]TGATGTGATCCTGGC | 58513 |
rs40171 | snp | G/T | 0.234109 | 0.249494 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16457435 | CCTCGCTTGACTGAG[G/T]CTCCCTGGACAGGCT | 58513 |
rs658931 | snp | A/G | 0.477684 | 0.103247 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16452897 | aggcaggagaatggc[A/G]tgaaccggggaggcg | 58513 |
rs748262 | snp | A/G | 0.2462 | 0.249971 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16376384 | TGGGATTTCTCTCGT[A/G]TGACAGAGTTAGGCC | 58513 |
rs873636 | snp | A/G | 0.471281 | 0.11634 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16403960 | TAAAAGATGTTAAAG[A/G]GATTCACAGTGCAGG | 58513 |
rs875622 | snp | C/T | 0.442249 | 0.159814 | intron-variant, synonymous-codon, missense | EPS15L1 | GRCh38.p7 | 19:16356948 | GCTGGTCAGAGGCAG[C/T]GCATCGCAGAGAGAC | 58513 |
rs875623 | snp | C/T | 0.348134 | 0.229934 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16357192 | ACAGCGGGCCCACCC[C/T]CAGGTTGTCACGCAG | 58513 |
rs882306 | snp | C/T | 0.249886 | 0.25 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16381337 | GTCTGGTGGCCCCAG[C/T]CTGGGAGGCAGACGA | 58513 |
rs897791 | snp | C/T | 0.242775 | 0.249896 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16380048 | ACTAGACACTGGAGC[C/T]TTAGCTGGCTGCATC | 58513 |
rs921940 | snp | A/G | 0.0777841 | 0.181223 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16445011 | GGCATGAGCCACCAC[A/G]CCCAGCCCCAGGCGA | 58513 |
rs936312 | snp | A/G | 0.244776 | 0.249945 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16435316 | TAGGAATAGCTCTTC[A/G]TGAACAGAGGGAAGG | 58513 |
rs936313 | snp | A/G | 0.244776 | 0.249945 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16435573 | CAAGACAGAGCCCTC[A/G]GTCACAGAGATGAGA | 58513 |
rs1003113 | snp | G/T | 0 | 0 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16406783 | ATTTGCCCAGAAGAG[G/T]CATGACAGGAGGACA | 58513 |
rs1009904 | snp | C/T | 0 | 0 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16399112 | CCCCTGCACTGACAG[C/T]CAGGCCTGCAATCAC | 58513 |
rs1017690 | snp | G/T | 0.208779 | 0.246578 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16422246 | GAGGTGACCGGGCCC[G/T]GGTTGACCCATGATG | 58513 |
rs1060791 | snp | A/C | | | utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B | EPS15L1 | GRCh38.p7 | 19:16355380 | CCCAGGGCTTCCCCG[A/C]CTCCTCCCTACTCAT | 58513 |
rs1107955 | snp | A/G | 0.077417 | 0.180873 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16378427 | CCTGCTGGGGAACTC[A/G]GCCCACCTCGTCCAC | 58513 |
rs1107956 | snp | C/G | 0.126909 | 0.217598 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16378437 | AACTCGGCCCACCTC[C/G]TCCACCAGGAACCCC | 58513 |
rs1551561 | snp | A/G | 0.0581099 | 0.160244 | intron-variant, utr-variant-3-prime | EPS15L1 | GRCh38.p7 | 19:16402024 | GGGCCAACCACCCAA[A/G]TTCAGAGGGCTTCTC | 58513 |
rs1870071 | snp | A/G | 0.47709 | 0.104548 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16394295 | GGGAAGAGAGGAGTG[A/G]ATTCTAGCCCACTCT | 58513 |
rs2034892 | snp | C/T | 0.479095 | 0.100076 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16380738 | CTAAATTGTAGAGAC[C/T]TAGAGAGTCGCATCT | 58513 |
rs2124915 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16417728 | TGTACTAAAGGGACA[A/G]TTTTATCCCTGGGCC | 58513 |
rs2168647 | snp | C/T | 0.327211 | 0.237778 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16375018 | ACATGCTCTCATAGA[C/T]AACAGCTGGGCATGC | 58513 |
rs2290666 | snp | C/T | 0.00835141 | 0.0640778 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16394396 | TCATTGCTGCAGGGC[C/T]GGTGATAAAGTGAGG | 58513 |
rs2290667 | snp | G/T | 0.0170715 | 0.0907983 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16394043 | CCCGGCCCGCATCCT[G/T]TGCCCTAGAGCTAAT | 58513 |
rs2290668 | snp | C/T | 0.484632 | 0.086302 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16385981 | TCCCCTTCCTGGGCA[C/T]GCGCTGGCATCTTTC | 58513 |
rs2290669 | snp | G/T | 0.450231 | 0.149691 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16384963 | TGTGATCCAATGCAC[G/T]GCAGTCCCGTGGGGT | 58513 |
rs2305781 | snp | A/G | 0.207559 | 0.246371 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16442103 | AAAGGCCGCTCAGCC[A/G]GGCTTCTATTCTGTA | 58513 |
rs2362468 | snp | A/C | 0 | 0 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16376054 | TCCAGGGGAGGGGCA[A/C]GTGTAGGCAGGAGGG | 58513 |
rs2363120 | snp | A/C | 0.493925 | 0.054776 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16409060 | GACCCTGTCTCTTAA[A/C]AAAAAAAAATTGTTT | 58513 |
rs2363121 | snp | C/T | 0.206947 | 0.246265 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16441199 | ACAGGCGTGAACCAC[C/T]GCGCTTGGCCACTTG | 58513 |
rs2607278 | snp | C/T | 0.47709 | 0.104548 | | | GRCh38.p7 | 19:16457386 | CATACACCCAGGGCA[C/T]CAGGAGACCTGGAAG | 58513 |
rs2885706 | snp | A/C | 0.478271 | 0.101943 | upstream-variant-2KB | EPS15L1 | GRCh38.p7 | 19:16472126 | CAGGGGCGGGGCCGC[A/C]CACACGCAGCCTGGA | 58513 |
rs3082716 | in-del | -/TG | 0.491525 | 0.0645418 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16375467 | GTGATTATGCATATA[-/TG]TGTGTGTGTGTGTGT | 58513 |
rs3745315 | snp | C/T | 0.0260105 | 0.111035 | intron-variant, utr-variant-3-prime | EPS15L1 | GRCh38.p7 | 19:16383852 | GGCAGCCAAGGGAGA[C/T]TGCCCAGTCACACTG | 58513 |
rs3745316 | snp | A/G | | | intron-variant, utr-variant-3-prime | EPS15L1 | GRCh38.p7 | 19:16383906 | GGCCGGTGGGGCCCC[A/G]AGGGGGCCTCATGCC | 58513 |
rs3786578 | snp | C/T | 0.0232847 | 0.105357 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16363460 | CACACAGGCCAGCCT[C/T]GGTCCCTCTCCATGC | 58513 |
rs3786579 | snp | A/G | 0.209084 | 0.246629 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16364747 | TGTGAGCCCCAGGCT[A/G]TCCACTGGAGCAGAA | 58513 |
rs3786580 | snp | A/G | 0.294832 | 0.245947 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16364762 | GTCCACTGGAGCAGA[A/G]GGGGCTCCCTAGGGC | 58513 |
rs3786581 | snp | C/G | 0.293551 | 0.246177 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16364815 | GCGAGGGCCCCTCAC[C/G]TCCACCCTCCCGTCC | 58513 |
rs3786582 | snp | C/G | 0.207559 | 0.246371 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16374723 | CTGTTGAGTGGGATG[C/G]CTCCTCCTCAGGGCC | 58513 |
rs3786584 | snp | A/C | 0.0509478 | 0.151255 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16375304 | CAGGTGCATGCATGC[A/C]TGTGTCTGCAGGCGT | 58513 |
rs3786585 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16377837 | CATGCCCGGCCACCC[A/G]CACTGGTCAGCATGC | 58513 |
rs3786586 | snp | A/G | 0.209693 | 0.246729 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16384476 | GATGTTCCCTGTTGA[A/G]TTCTCTATGCTACCT | 58513 |
rs3786587 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16392168 | TGGGATACCAGCTCC[C/T]GGAGAACAGACACCA | 58513 |
rs3786588 | snp | C/T | 0.208169 | 0.246476 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16405932 | AGCTGCCATGTGGAG[C/T]GTGGTGCAAGGGGCC | 58513 |
rs3786589 | snp | A/G | 0.236434 | 0.249632 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16415976 | CGGCCCCCAGGAGCT[A/G]AGACAGAACAGGAAC | 58513 |
rs4399660 | snp | A/G | 0.214843 | 0.247516 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16443717 | CTCTGTCTCAAAAAT[A/G]AAAAGAAAAAAATAA | 58513 |
rs4470265 | snp | A/G | 0.170408 | 0.236992 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16469089 | GCAAGTAGGAAGTAG[A/G]ATGGCCCAGACCACT | 58513 |
rs4545941 | snp | C/T | 0.155987 | 0.23165 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16423396 | CACAGCAAGACCCCA[C/T]CTCTACAAAATAAAT | 58513 |
rs4808047 | snp | C/T | 0.381503 | 0.21262 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16417023 | CCGCTCCTCGCCATC[C/T]GAGACCCAATTGCCC | 58513 |
rs4808496 | snp | A/T | 0.243919 | 0.249926 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16359866 | AGACTCATCTCCAAA[A/T]ATGTAAAAACCAAAA | 58513 |
rs4808497 | snp | A/C | 0.257732 | 0.24988 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16359900 | TAGGGAAAAAAAAAA[A/C]AAAAACAGAAAACAA | 58513 |
rs4808498 | snp | C/T | 0.249603 | 0.25 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16369260 | CAAGCAGCACAGCCC[C/T]GGGAGATAAGAATCT | 58513 |
rs4808500 | snp | C/T | 0.152667 | 0.230274 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16389126 | agAaatcgcttgaac[C/T]tgggaggcggaggtt | 58513 |
rs4808501 | snp | C/T | 0.0123036 | 0.0774623 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16392648 | aatgacagaagtgtt[C/T]tCAAATTGCACACAA | 58513 |
rs4808502 | snp | A/C | 0.322721 | 0.23919 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16393048 | ccccatctctaaata[A/C]ataaataaaaTATCC | 58513 |
rs4808503 | snp | C/T | | | intron-variant | EPS15L1 | GRCh38.p7 | 19:16420853 | ACTGACAGGGTCTCC[C/T]TGTGCTCACCCTCCC | 58513 |
rs4808504 | snp | A/G | | | intron-variant | EPS15L1 | GRCh38.p7 | 19:16420917 | GGGCCTCCTGCCCCC[A/G]CCCTCACCCTGCCAG | 58513 |
rs4808505 | snp | C/T | 0.14665 | 0.227637 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16427766 | GGCTGTGATGGAGTG[C/T]ACCTGTAATTCCAGC | 58513 |
rs4808508 | snp | A/G | | | intron-variant | EPS15L1 | GRCh38.p7 | 19:16428532 | GAAAGTGAAAGAAAG[A/G]AAGGAAGAAAGACAG | 58513 |
rs4808509 | snp | A/G | | | intron-variant | EPS15L1 | GRCh38.p7 | 19:16428536 | GTGAAAGAAAGAAAG[A/G]AAGAAAGACAGAAAA | 58513 |
rs4808510 | snp | A/C | 0.479824 | 0.098392 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16428545 | AGAAAGGAAGAAAGA[A/C]AGAAAAGAAAGGAAA | 58513 |
rs4808511 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16447500 | cactctggctcacac[C/T]tgtaatcccagcact | 58513 |
rs4808513 | snp | C/G | 0.478104 | 0.102316 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16469687 | AGTGCAGACAGGAGT[C/G]GGGGTGGAGAAAACA | 58513 |
rs5827337 | in-del | -/T | 0.5 | 0 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16399682 | TTTTGCTTTTTGGGG[-/T]TTTTTTTTTTTTTTT | 58513 |
rs6512105 | snp | A/T | 0.227074 | 0.248947 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16367986 | GAGAGAGAGAGAGAG[A/T]GTGTGTGTGTGTGTG | 58513 |
rs6512106 | snp | A/T | 0.2462 | 0.249971 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16368211 | CTCATCCTACACAAC[A/T]GTGGACACACATACA | 58513 |
rs6512107 | snp | A/G | 0.0182019 | 0.0936463 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16385525 | GTCAGGAGGCGAGGA[A/G]CAACTCCAGGGCGAC | 58513 |
rs7245590 | snp | C/T | 0.238171 | 0.24972 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16399468 | CTTAGGAAATACACA[C/T]GGCAACTCTGAAAGG | 58513 |
rs7247807 | snp | A/G | 0.0596104 | 0.162024 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16452526 | tcgagaagctaaggc[A/G]ggaggattgcctgag | 58513 |
rs7250165 | snp | G/T | 0.242775 | 0.249896 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16379784 | TCACACCAGTGCAGA[G/T]GTCTAAGGCTCCAGT | 58513 |
rs7251346 | snp | A/T | 0 | 0 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16417902 | CCTGGTGGCAGGCGG[A/T]GGGAAGGGATGTCAA | 58513 |
rs7251554 | snp | A/C | 0.242775 | 0.249896 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16379783 | GTCACACCAGTGCAG[A/C]GGTCTAAGGCTCCAG | 58513 |
rs7251806 | snp | C/T | 0.397994 | 0.201489 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16388758 | CGTGAACCCGGGAGG[C/T]GGAGCTTGCAGTGAG | 58513 |
rs7252649 | snp | G/T | 0.268422 | 0.24932 | utr-variant-5-prime, nc-transcript-variant | EPS15L1 | GRCh38.p7 | 19:16471974 | CGGGCTCCGAGCGCC[G/T]GGGGAACGGGGGCGG | 58513 |
rs7253951 | snp | A/T | 0.0295035 | 0.117819 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16449998 | gggataaggaagaga[A/T]gggctgggagggaag | 58513 |
rs7255877 | snp | C/T | 0.25045 | 0.25 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16468384 | TGAGTCTCACCCTGT[C/T]GCCCAGGCTGGGGTG | 58513 |
rs7256705 | snp | A/G | 0.0115144 | 0.0749975 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16464268 | AGCTGGGACTCCTAT[A/G]AAGGGAAAAGCCCAA | 58513 |
rs7256818 | snp | A/C | 0.47802 | 0.102502 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16447955 | CAGACACACACAGAT[A/C]TGCCCAGTGGATTTC | 58513 |
rs7258646 | snp | C/G | 0 | 0 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16373176 | CCTATGGGTCCTTCA[C/G]ACTTTTTGTCAGTCT | 58513 |
rs7260337 | snp | C/T | 0.130694 | 0.219696 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16390022 | tagacttaaaccata[C/T]caataattacattaa | 58513 |
rs7359963 | snp | A/G | 0.00795532 | 0.062565 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16457356 | ATGGAGGGCCAGTCC[A/G]CAGCCAGCAGCAGAC | 58513 |
rs7508550 | snp | A/C | 0.210605 | 0.246877 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16393705 | taaaataaataaata[A/C]atTAGCAAGCAATGT | 58513 |
rs8100142 | snp | A/G | 0.0349115 | 0.127424 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16385789 | TCTACACTGTGAGAT[A/G]AGGTTCCTTCAAACA | 58513 |
rs8100152 | snp | A/G | 0.0134861 | 0.0810011 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16370158 | CAGAGCCCACCAGGA[A/G]CTCCCATGGTGGGGG | 58513 |
rs8100479 | snp | A/G | 0.148661 | 0.22854 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16360904 | ATCTATAAATAACAC[A/G]TCTCACACCTAATGA | 58513 |
rs8101713 | snp | C/T | | | intron-variant | EPS15L1 | GRCh38.p7 | 19:16394354 | TGCCAGCTCCCTGGG[C/T]AAGAGGACACAGGAC | 58513 |
rs8102323 | snp | A/G | 0.0295035 | 0.117819 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16397382 | ggcgtgagccaccgc[A/G]cccggctgtttgtct | 58513 |
rs8102735 | snp | A/T | 0 | 0 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16390478 | aaacaagacacagat[A/T]atctgaacactatga | 58513 |
rs8103474 | snp | A/G | 0.00755907 | 0.0610114 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16397239 | ggattacaggcgtgc[A/G]ccaccatgcccagct | 58513 |
rs8106973 | snp | A/G | | | intron-variant | EPS15L1 | GRCh38.p7 | 19:16362694 | tttgtatttttagta[A/G]agatgggattttgcc | 58513 |
rs8109484 | snp | A/G | 0.0295035 | 0.117819 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16438428 | AAATTTCAGATGCAT[A/G]TATTTTCCAAAAACT | 58513 |
rs8110761 | snp | A/G | 0.474903 | 0.109173 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16390194 | gaaaaatgatgtatc[A/G]tgtagtgaataacat | 58513 |
rs8111949 | snp | A/T | 0.0189856 | 0.0955633 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16393656 | tccgtctcaaaaaaa[A/T]aaaaaataaaaaata | 58513 |
rs8113380 | snp | C/T | 0.0766824 | 0.180169 | intron-variant | EPS15L1 | GRCh38.p7 | 19:16390426 | ggagaatgtttaacg[C/T]ctctctctcagacac | 58513 |