SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs8791 | snp | A/T | 0.491783 | 0.0635686 | utr-variant-3-prime, upstream-variant-2KB | U2AF2, EPN1 | GRCh38.p7 | 19:55674397 | AGGGGTCTATGGGAG[A/T]AGGAGAGGCTGTTTT | 29924 |
rs648651 | snp | A/G | 0.372794 | 0.217765 | downstream-variant-500B, upstream-variant-2KB | U2AF2, EPN1 | GRCh38.p7 | 19:55675117 | AACCTGGAAGGCATC[A/G]CTTCCGGCGCGCTGG | 29924 |
rs664684 | snp | C/T | 0.394498 | 0.20401 | intron-variant, upstream-variant-2KB | U2AF2, EPN1 | GRCh38.p7 | 19:55673884 | GCTCACGCCCAACAG[C/T]CAGTCAGCGTCCACC | 29924 |
rs680444 | snp | C/G | 0.0193772 | 0.0965046 | downstream-variant-500B, upstream-variant-2KB | U2AF2, EPN1 | GRCh38.p7 | 19:55675045 | AGCGGGGGATCCGCG[C/G]GGTGCTCACGGAACG | 29924 |
rs868212 | snp | C/T | 0 | 0 | intron-variant | EPN1 | GRCh38.p7 | 19:55688365 | GAACCAAGGGCTCCT[C/T]GCTAGCCCACTCCCT | 29924 |
rs2303760 | snp | A/G | 0.125182 | 0.216612 | intron-variant | EPN1 | GRCh38.p7 | 19:55689772 | TCAGCCGCTTTCGTT[A/G]GGGTGGGAGGGGTTG | 29924 |
rs3786642 | snp | A/G | 0.312348 | 0.242101 | intron-variant | EPN1 | GRCh38.p7 | 19:55693625 | TCAGCTGAGGGCCGC[A/G]GCGAAGCACCAGTGG | 29924 |
rs3786643 | snp | C/T | 0.00676609 | 0.0577691 | intron-variant | EPN1 | GRCh38.p7 | 19:55693522 | GGCGCCAGCTTACGC[C/T]AGCTGAAAACCCCAA | 29924 |
rs3786644 | snp | A/G | 0.330482 | 0.236691 | intron-variant | EPN1 | GRCh38.p7 | 19:55686301 | CGGCTGTGAGCCCCC[A/G]ACCAACACAGACCAC | 29924 |
rs3786645 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | EPN1 | GRCh38.p7 | 19:55686232 | TAACTGGAAATGTTT[C/T]GTGGGACAGATCTTG | 29924 |
rs3786646 | snp | C/T | 0.28052 | 0.24813 | intron-variant | EPN1 | GRCh38.p7 | 19:55680508 | TGAGGCTGAACCCCA[C/T]CCCAGCATGAGGAAC | 29924 |
rs6509950 | snp | A/G | 0.455383 | 0.142541 | intron-variant | EPN1 | GRCh38.p7 | 19:55683002 | cctcgtgatccgccc[A/G]ccttggcctcccaaa | 29924 |
rs7247677 | snp | C/T | 0.496778 | 0.0400063 | upstream-variant-2KB, intron-variant | EPN1 | GRCh38.p7 | 19:55675731 | CTGTCCCGGGTCTCT[C/T]TCTCCTCTGTCTGTC | 29924 |
rs7249837 | snp | C/T | 0.49263 | 0.0602539 | intron-variant | EPN1 | GRCh38.p7 | 19:55679904 | TGCAGGTGAGCCTCT[C/T]TGGAGGCAACGAGGA | 29924 |
rs7253455 | snp | A/G | 0.0414363 | 0.137845 | intron-variant | EPN1 | GRCh38.p7 | 19:55686158 | GGAGGACTCAGTCTG[A/G]TGGGTGGTGACCAGC | 29924 |
rs8100143 | snp | A/T | 0.335101 | 0.23507 | intron-variant | EPN1 | GRCh38.p7 | 19:55679069 | GAGTGAGTGGTGCGT[A/T]CGTAAGATTCATGTG | 29924 |
rs8104242 | snp | C/T | 0.334642 | 0.235236 | intron-variant | EPN1 | GRCh38.p7 | 19:55679449 | CTGAATCTCCCTCTG[C/T]GAGGGCCCATGGAGC | 29924 |
rs8106718 | snp | A/C/G | 0.000304522 | 0.0123357 | utr-variant-5-prime, intron-variant | EPN1 | GRCh38.p7 | 19:55677166 | TGGCTTCTTGGAGCC[A/C/G]CATAGATGGGTGATC | 29924 |
rs8108907 | snp | C/G | 0.323197 | 0.239044 | intron-variant | EPN1 | GRCh38.p7 | 19:55682679 | ctcaagcgatccacc[C/G]actttagcctctcaa | 29924 |
rs8109983 | snp | C/T | 0.378568 | 0.214407 | intron-variant | EPN1 | GRCh38.p7 | 19:55683077 | tgttttttcttgaaa[C/T]ggagtttcgctcttg | 29924 |
rs10403866 | snp | G/T | 0.215446 | 0.2476 | intron-variant | EPN1 | GRCh38.p7 | 19:55688246 | AGGGTAGGCGGGGTT[G/T]CTGAGAGGATGCTGC | 29924 |
rs10405078 | snp | C/T | 0.298398 | 0.245271 | intron-variant | EPN1 | GRCh38.p7 | 19:55688245 | GAGGGTAGGCGGGGT[C/T]GCTGAGAGGATGCTG | 29924 |
rs10408454 | snp | A/C | 0 | 0 | intron-variant | EPN1 | GRCh38.p7 | 19:55694243 | AAAAAAAAAAAAAAA[A/C]CAGAAAATCAGACCT | 29924 |
rs10408613 | snp | A/C | 0.330482 | 0.236691 | intron-variant | EPN1 | GRCh38.p7 | 19:55694207 | TGGGGAAACGAGCGA[A/C]ACTCCGTCTCAGAAA | 29924 |
rs10410404 | snp | C/T | 0.333952 | 0.235483 | intron-variant | EPN1 | GRCh38.p7 | 19:55694271 | CCTCTAGCCAACAGA[C/T]GTCTTCACGCTGGCC | 29924 |
rs10410802 | snp | A/G | 0.359998 | 0.2245 | intron-variant | EPN1 | GRCh38.p7 | 19:55690451 | AGCAAACCCTCCCAC[A/G]ACCTTGTGCTTCCAG | 29924 |
rs10415521 | snp | C/T | 0.293807 | 0.246132 | intron-variant | EPN1 | GRCh38.p7 | 19:55677406 | ATTTGCTTGACTCTC[C/T]TGTTTCTCGTCACCA | 29924 |
rs10417539 | snp | C/G | 0.241914 | 0.249869 | intron-variant | EPN1 | GRCh38.p7 | 19:55682681 | caagcgatccaccga[C/G]tttagcctctcaaag | 29924 |
rs10647751 | in-del | -/AG | | | intron-variant | EPN1 | GRCh38.p7 | 19:55682447 | CATTTATTTTGAGAA[-/AG]AGTCTCACTGTTGCC | 29924 |
rs11376705 | in-del | -/T | 0.497829 | 0.0328757 | intron-variant, upstream-variant-2KB | U2AF2, EPN1 | GRCh38.p7 | 19:55673322 | CTCTTTTTTTTTTTT[-/T]GCAAGCTCTTTTATT | 29924 |
rs11545669 | snp | C/G | 0.0408687 | 0.136984 | missense | EPN1 | GRCh38.p7 | 19:55694771 | CGGCCCGAAGCCCTG[C/G]GGCGTTTGACATGAG | 29924 |
rs11665910 | snp | A/C | 0.00358779 | 0.0422022 | intron-variant | EPN1 | GRCh38.p7 | 19:55680768 | GCAGTCCCCTTCTGG[A/C]AGTACGGGTGATGAG | 29924 |
rs11665941 | snp | C/G | 0.00358779 | 0.0422022 | intron-variant | EPN1 | GRCh38.p7 | 19:55680790 | GGTGATGAGGACAAC[C/G]CCACAGGCCCAGAGG | 29924 |
rs11667416 | snp | C/T | 0.00597247 | 0.0543191 | utr-variant-5-prime, intron-variant | EPN1 | GRCh38.p7 | 19:55676815 | tggcctcctgcctcc[C/T]tgtcttcccatgttc | 29924 |
rs11672596 | snp | C/T | 0.00795532 | 0.062565 | intron-variant | EPN1 | GRCh38.p7 | 19:55692156 | TCGAGCCAGTGGCGC[C/T]GGGCAGTGGTGGGGC | 29924 |
rs11878421 | snp | A/G | 0.0189856 | 0.0955633 | intron-variant | EPN1 | GRCh38.p7 | 19:55681218 | TGAGTATTGGTGAGT[A/G]AGGGCCGGCGTTTAT | 29924 |
rs11882031 | snp | C/T | 0.358728 | 0.225118 | intron-variant | EPN1 | GRCh38.p7 | 19:55682296 | CAGCACCGTGtctga[C/T]ttctgtctgccaaga | 29924 |
rs12151353 | snp | C/T | 0.0221141 | 0.102801 | upstream-variant-2KB, utr-variant-5-prime | EPN1 | GRCh38.p7 | 19:55675220 | CTTCCGGTCCGTCGC[C/T]TCCTTCTGTTGCTTC | 29924 |
rs12459613 | snp | C/T | 0 | 0 | intron-variant | EPN1 | GRCh38.p7 | 19:55694215 | cgagcgacactccgt[C/T]tcagaaaaaaaaaaa | 29924 |
rs12983404 | snp | A/G | | | downstream-variant-500B, upstream-variant-2KB | U2AF2, EPN1 | GRCh38.p7 | 19:55674978 | GCGGGCGTGGCGTGG[A/G]TGTGCCAGGAGCTCC | 29924 |
rs12985023 | snp | C/T | 0.245346 | 0.249957 | intron-variant | EPN1 | GRCh38.p7 | 19:55691388 | CGAGCTGCTTCGGGT[C/T]GAGCGAGGGGAGGGC | 29924 |
rs13382147 | snp | C/G | 0.0592355 | 0.161582 | intron-variant | EPN1 | GRCh38.p7 | 19:55691671 | AGGGCCTGGCCGCCT[C/G]CCCCGCCACGGGCCC | 29924 |
rs28385383 | snp | C/T | 0.335101 | 0.23507 | intron-variant | EPN1 | GRCh38.p7 | 19:55683620 | AGCCTCCCATAGTGC[C/T]GGGATTATAGGCGTG | 29924 |
rs28595590 | snp | A/G | 0.33533 | 0.234987 | intron-variant | EPN1 | GRCh38.p7 | 19:55683504 | TTACAGGTGTGCACC[A/G]CCACACCTGGCCAGT | 29924 |
rs28668166 | snp | C/T | 0.323908 | 0.238825 | intron-variant | EPN1 | GRCh38.p7 | 19:55683306 | GTGATCTGCCCGCCT[C/T]GGCCTCTCAAAATGG | 29924 |
rs34046411 | snp | A/C | 0.301177 | 0.244706 | intron-variant | EPN1 | GRCh38.p7 | 19:55688691 | TCCCCACCCTTCCTC[A/C]TCTGAGCACCTGGCG | 29924 |
rs34678745 | snp | C/G | 0.25912 | 0.249834 | intron-variant | EPN1 | GRCh38.p7 | 19:55680836 | AAGCTGCTACACCCC[C/G]TTTGGCCCTCTCCGG | 29924 |
rs34834404 | snp | A/G | 0.20511 | 0.245937 | intron-variant | EPN1 | GRCh38.p7 | 19:55679279 | TGAGCAGGACTCAGC[A/G]ACTGGGTTTTCAGTT | 29924 |
rs34908329 | snp | A/G | 0.0282881 | 0.115516 | synonymous-codon | EPN1 | GRCh38.p7 | 19:55694874 | CACCCGGAAGACGCC[A/G]GAGTCATTCCTGGGG | 29924 |
rs34925793 | in-del | -/T | | | upstream-variant-2KB, intron-variant | EPN1 | GRCh38.p7 | 19:55675709 | GATAGGAGTGTGTTT[-/T]GTGTGTCTGTCCCGG | 29924 |
rs34960032 | in-del | -/G | | | intron-variant | EPN1 | GRCh38.p7 | 19:55679953 | TGGGTGTGCAGAGGG[-/G]ATGAATCCAGAGGGG | 29924 |
rs34964673 | snp | G/T | 0.264906 | 0.249555 | intron-variant | EPN1 | GRCh38.p7 | 19:55684860 | CCCATGGCGGCTGTG[G/T]TGCCTGTAGCTGCCA | 29924 |
rs35321064 | in-del | -/C | | | intron-variant | EPN1 | GRCh38.p7 | 19:55679329 | GGCCTTGGCATCCCC[-/C]ACCTTTGGTCTTTGG | 29924 |
rs35357652 | snp | C/G | 0.204803 | 0.245881 | intron-variant | EPN1 | GRCh38.p7 | 19:55680700 | GTCCAGGAGGGGGTC[C/G]CTGGGTCCACGTCTA | 29924 |
rs35562691 | snp | C/G | 0.285257 | 0.247501 | intron-variant | EPN1 | GRCh38.p7 | 19:55688303 | CCTCCTGGAGGGTCC[C/G]GCCCTGCCTTCCTGT | 29924 |
rs35564756 | in-del | -/C | | | intron-variant | EPN1 | GRCh38.p7 | 19:55685381 | TGACCGGGCATCCCC[-/C]GTGCCCGCTCGCAGG | 29924 |
rs35608938 | in-del | -/C | | | intron-variant | EPN1 | GRCh38.p7 | 19:55683688 | GTATGTGGTAGTCCC[-/C]GCTGTGTGAGCGTGC | 29924 |
rs35764106 | in-del | -/C | | | frameshift-variant | EPN1 | GRCh38.p7 | 19:55678714 | CGAGAGGCCACGAGC[-/C]AATGACCCCTGGGGC | 29924 |
rs35930019 | snp | A/G | 0.444444 | 0.157135 | intron-variant | EPN1 | GRCh38.p7 | 19:55682959 | ATGGGGTTTCACCAT[A/G]TTGGCCAGGCTGGTC | 29924 |
rs36036382 | in-del | -/T | | | intron-variant | EPN1 | GRCh38.p7 | 19:55684354 | AGTTGTGCCTTTTTT[-/T]GAGGTCAGTGACCAA | 29924 |
rs56186817 | snp | A/C | 0.0166325 | 0.0896639 | intron-variant | EPN1 | GRCh38.p7 | 19:55679590 | ACCAACAAGGCCCCA[A/C]CCTCATGCGCTTAGA | 29924 |
rs56846023 | snp | G/T | | | upstream-variant-2KB, utr-variant-5-prime | EPN1 | GRCh38.p7 | 19:55675355 | CGCCCGTGGCCCGGC[G/T]CACGTCCCGCGACAC | 29924 |
rs57544196 | snp | C/G | 0.347473 | 0.230215 | intron-variant | EPN1 | GRCh38.p7 | 19:55680835 | GAAGCTGCTACACCC[C/G]CTTTGGCCCTCTCCG | 29924 |
rs57834282 | snp | A/G | 0.0154538 | 0.0865337 | intron-variant | EPN1 | GRCh38.p7 | 19:55682780 | ATTTATTTATGAGAC[A/G]GAGTCTCGCTGTGTT | 29924 |
rs59036809 | in-del | -/GGGGGGTT | | | utr-variant-3-prime, upstream-variant-2KB | U2AF2, EPN1 | GRCh38.p7 | 19:55674242 | GGGGGTTGGGGGGTT[-/GGGGGGTT]AGGGCAGGGAGGGGA | 29924 |
rs59221728 | snp | G/T | 0.0471551 | 0.14613 | intron-variant | EPN1 | GRCh38.p7 | 19:55688001 | AGTACAGGACACAGG[G/T]GCAAGGCGGCGTCTT | 29924 |
rs59279211 | in-del | -/CACCTC | | | intron-variant | EPN1 | GRCh38.p7 | 19:55682819 | CAGTGGCACCACCTC[-/CACCTC]GGCTCACTGCAACTT | 29924 |
rs60091730 | snp | A/G | 0.284471 | 0.247612 | intron-variant | EPN1 | GRCh38.p7 | 19:55684416 | GACTCCTCAAGCCCA[A/G]GACTTGAGCCTGAGC | 29924 |
rs60873246 | snp | A/G | 0.330016 | 0.236849 | intron-variant | EPN1 | GRCh38.p7 | 19:55693925 | TAAATCTATTTAAAA[A/G]GAAAATCAGGCCAGG | 29924 |
rs60906470 | snp | A/G | 0.110872 | 0.20771 | intron-variant | EPN1 | GRCh38.p7 | 19:55687762 | CTCACTCATAACCCC[A/G]GATGGTCACCCTTCG | 29924 |
rs61642477 | snp | C/G | 0.0517044 | 0.152246 | intron-variant | EPN1 | GRCh38.p7 | 19:55692563 | GGGAGGCCGGGTGGG[C/G]TGGGTTTCTGGGGGG | 29924 |
rs61736521 | snp | C/T | 0.0519748 | 0.152598 | missense | EPN1 | GRCh38.p7 | 19:55694945 | GGCCGGGCCCCACGC[C/T]GCCTGGAGCCAAGGC | 29924 |
rs61736526 | snp | A/G | 0.024894 | 0.108753 | synonymous-codon | EPN1 | GRCh38.p7 | 19:55688919 | CGAGGCGGAGCAGGC[A/G]TGGCCGCAGAGCAGC | 29924 |
rs62126976 | snp | A/G | | | intron-variant | EPN1 | GRCh38.p7 | 19:55679090 | GATTCATGTGCTGAG[A/G]AGGCCTGAGAGGGCC | 29924 |
rs66906879 | snp | A/G | 0.329783 | 0.236927 | intron-variant | EPN1 | GRCh38.p7 | 19:55692619 | ACAGATTTGGAGGCA[A/G]TGGTCCTCCCTAGCC | 29924 |
rs73062562 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | EPN1 | GRCh38.p7 | 19:55686959 | GGCCAGAGCTAATGT[C/T]CTCTGCGTTGCTGGC | 29924 |
rs73613271 | snp | C/T | 0.0264365 | 0.11189 | intron-variant | EPN1 | GRCh38.p7 | 19:55678501 | ATGTCCCATTTGTGT[C/T]TCCAGAGGTCCTCTT | 29924 |
rs73613277 | snp | C/T | 0.0475351 | 0.146656 | intron-variant | EPN1 | GRCh38.p7 | 19:55679550 | CATCTGCAGAAGGCC[C/T]GCTCTGGGTGTCTTG | 29924 |
rs73613281 | snp | C/T | 0.296873 | 0.245566 | intron-variant | EPN1 | GRCh38.p7 | 19:55681704 | TCCTTGATAAAGCTG[C/T]CTTTAACATTAAGAA | 29924 |
rs73613287 | snp | C/T | 0.0471551 | 0.14613 | intron-variant | EPN1 | GRCh38.p7 | 19:55684952 | CAGTTCAGTGGCCTT[C/T]GGCCCATTCACAGTG | 29924 |
rs73613290 | snp | A/G | 0.0766824 | 0.180169 | intron-variant | EPN1 | GRCh38.p7 | 19:55693332 | CTTGAGTGCCTTGCA[A/G]ACTCTCCAGGTGTCT | 29924 |
rs73613291 | snp | A/G | 0.0471551 | 0.14613 | intron-variant | EPN1 | GRCh38.p7 | 19:55693865 | TTTAGGCCCTTTTTT[A/G]TCCCATACAAATGTG | 29924 |
rs73933303 | snp | A/G | 0.0509478 | 0.151255 | intron-variant | EPN1 | GRCh38.p7 | 19:55680215 | GAAACCCAGCCTTTC[A/G]AGATAGAGTTCTCTG | 29924 |
rs73933306 | snp | C/T | 0.0475351 | 0.146656 | intron-variant | EPN1 | GRCh38.p7 | 19:55683952 | TATGTGCGTTATTTT[C/T]CTGGTCTGAACTCAG | 29924 |
rs73933307 | snp | A/G | 0.0152493 | 0.0859773 | intron-variant | EPN1 | GRCh38.p7 | 19:55685363 | CGCCTTGTGCCCGGC[A/G]TGCTGACCGGGCATC | 29924 |
rs73933308 | snp | C/T | 0.0509478 | 0.151255 | intron-variant | EPN1 | GRCh38.p7 | 19:55688280 | GGAGGCCGGGGATAT[C/T]TCAGCAGCCTCCTGG | 29924 |
rs73933309 | snp | A/G | 0.0295515 | 0.117909 | intron-variant | EPN1 | GRCh38.p7 | 19:55689999 | TGCAGGTGTCCGTCC[A/G]TCCCATCGCTCATTC | 29924 |
rs73933310 | snp | C/G | 0.0520825 | 0.152737 | intron-variant | EPN1 | GRCh38.p7 | 19:55690392 | GCATGGTCCCGCCCT[C/G]GCGAACACTGTTTCT | 29924 |
rs73933311 | snp | C/T | 0.00597247 | 0.0543191 | intron-variant | EPN1 | GRCh38.p7 | 19:55691014 | CCGCCGGGGCCTTTG[C/T]CTCACGGGTGCTGAC | 29924 |
rs73936315 | snp | A/G | 0.039522 | 0.134904 | upstream-variant-2KB, intron-variant | EPN1 | GRCh38.p7 | 19:55676540 | ATAATAGCAGCCAGT[A/G]TTATTGAGCGCCTAC | 29924 |
rs73936316 | snp | A/G | 0.0399052 | 0.1355 | upstream-variant-2KB, intron-variant | EPN1 | GRCh38.p7 | 19:55676554 | TGTTATTGAGCGCCT[A/G]CTATCTGTGGGGCAC | 29924 |
rs73936318 | snp | A/G | 0.00517822 | 0.0506191 | intron-variant | EPN1 | GRCh38.p7 | 19:55678917 | GGAGGACAGGAGCCC[A/G]TGTTGTGCACCCTGC | 29924 |
rs74369843 | snp | C/G | 0.0382539 | 0.132904 | missense, intron-variant | EPN1 | GRCh38.p7 | 19:55677619 | CGAGCACCTGGCACA[C/G]AGCAGGGACCCAGGC | 29924 |
rs74587635 | snp | C/T | 0.0197687 | 0.0974348 | intron-variant | EPN1 | GRCh38.p7 | 19:55688239 | GAGTTTGAGGGTAGG[C/T]GGGGTTGCTGAGAGG | 29924 |
rs74977208 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | EPN1 | GRCh38.p7 | 19:55682561 | GTAGCAGGGATGACA[C/T]GCATGTGCCACCACG | 29924 |
rs75693236 | snp | C/T | 0.000523748 | 0.016174 | synonymous-codon | EPN1 | GRCh38.p7 | 19:55685509 | CCAGTACGTGGACCG[C/T]GACGGCAAGGACCAG | 29924 |
rs75998004 | snp | C/T | 0.0023933 | 0.0345097 | utr-variant-5-prime, intron-variant | EPN1 | GRCh38.p7 | 19:55676788 | TTTTTGTTTCTGGGC[C/T]TCTTTCTTCCTTGGC | 29924 |
rs76080867 | snp | A/G | 0.245346 | 0.249957 | intron-variant | EPN1 | GRCh38.p7 | 19:55686693 | TAGATGGGCGTGAAC[A/G]CAGAGAGAGAGTGAA | 29924 |
rs76206632 | snp | A/G | 0.225597 | 0.248806 | intron-variant | EPN1 | GRCh38.p7 | 19:55678046 | TGAGGCCCCAGGGAT[A/G]GGTGACTGTGATGTT | 29924 |
rs76618181 | snp | C/T | 0.00597247 | 0.0543191 | intron-variant | EPN1 | GRCh38.p7 | 19:55682609 | TATTTTATTTATTTA[C/T]TTTTTTAGAGCTGGG | 29924 |