SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs403595 | snp | C/T | 0.375 | 0.216506 | upstream-variant-2KB | EPN2 | GRCh38.p7 | 17:19235405 | ttttttatttatttg[C/T]tttgagacggagtct | 22905 |
rs754450 | snp | C/T | 0.00953873 | 0.0683987 | intron-variant | EPN2 | GRCh38.p7 | 17:19312505 | TGGTTGCCTCGTCAG[C/T]CCTGTGCCAGGCTTC | 22905 |
rs754451 | snp | C/T | 0.0611083 | 0.163768 | intron-variant | EPN2 | GRCh38.p7 | 17:19312616 | CTACACCACAGGCCC[C/T]GGGGCTCCATTGGCC | 22905 |
rs868698 | snp | G/T | 0.454302 | 0.144085 | intron-variant | EPN2 | GRCh38.p7 | 17:19281898 | CCCCTGCCAGACTGT[G/T]GCCTTCTTGAGGGCA | 22905 |
rs950953 | snp | C/T | 0.220246 | 0.248223 | intron-variant | EPN2 | GRCh38.p7 | 17:19252466 | CCCATCACTTAGCTT[C/T]AACAGTTAATTCTAG | 22905 |
rs950954 | snp | A/C | 0.221439 | 0.248363 | intron-variant | EPN2 | GRCh38.p7 | 17:19252535 | TATTCACTTTATTGG[A/C]AAATGCTTCAATACA | 22905 |
rs959071 | snp | A/G | 0.468047 | 0.122292 | intron-variant | EPN2 | GRCh38.p7 | 17:19238913 | TTCTGCCAAATCTTC[A/G]TTATATTACATAATG | 22905 |
rs1027872 | snp | C/T | 0.178785 | 0.239642 | intron-variant | EPN2 | GRCh38.p7 | 17:19240197 | GGGTCACCAGGTATA[C/T]ATGTCATAAAATGAC | 22905 |
rs1043808 | snp | A/C | 0.0578264 | 0.159904 | utr-variant-3-prime | EPN2, B9D1 | GRCh38.p7 | 17:19335960 | CCATGGGAATTTCTC[A/C]CCTCTAGCTCTAAGG | 22905 |
rs1043809 | snp | C/T | 0.421684 | 0.181726 | utr-variant-3-prime | EPN2, B9D1 | GRCh38.p7 | 17:19336119 | TGCTGTTCCTGAGGC[C/T]GCCCTCTCCAGTCCC | 22905 |
rs1043816 | snp | C/T | 0 | 0 | utr-variant-3-prime | EPN2, B9D1 | GRCh38.p7 | 17:19336478 | AGCCCCCTGCCCCAT[C/T]TTCTGGCACAGGCCA | 22905 |
rs1043819 | snp | C/T | 0 | 0 | utr-variant-3-prime | EPN2, B9D1 | GRCh38.p7 | 17:19336481 | CCCCTGCCCCATCTT[C/T]TGGCACAGGCCATCC | 22905 |
rs1043830 | snp | C/T | 0 | 0 | utr-variant-3-prime | EPN2, B9D1 | GRCh38.p7 | 17:19336624 | GTCACCCAGCTGTTT[C/T]TCAGTCCCAGAGGCC | 22905 |
rs1045824 | snp | C/T | 0 | 0 | utr-variant-3-prime, downstream-variant-500B | EPN2, B9D1 | GRCh38.p7 | 17:19334872 | ACATATTTTGTTTAG[C/T]ACAGTTTCATATTTG | 22905 |
rs1062727 | snp | A/C | 0 | 0 | missense | EPN2 | GRCh38.p7 | 17:19332035 | ACCAGGCCTGCCCCA[A/C]CAGCCCAGTCCCTCA | 22905 |
rs1396620 | snp | C/T | 0.178785 | 0.239642 | intron-variant | EPN2 | GRCh38.p7 | 17:19252848 | caaaaaatttgccgg[C/T]gatggtgacacgcac | 22905 |
rs1467028 | snp | A/G | 0.421209 | 0.182174 | intron-variant, nc-transcript-variant | EPN2, EPN2-IT1 | GRCh38.p7 | 17:19271561 | CACTGCGGGATGGGC[A/G]GTGAGCCAGGATCTT | 22905 |
rs1472932 | snp | C/T | 0.425894 | 0.177655 | intron-variant | EPN2 | GRCh38.p7 | 17:19317353 | CAAGGTCTTCTGAAT[C/T]AGCAGGCTATAAGCC | 22905 |
rs1533033 | snp | A/T | 0.426047 | 0.177503 | intron-variant | EPN2 | GRCh38.p7 | 17:19328061 | TGTTTTTTCTTTTTT[A/T]AAAAATTTTTTTCTC | 22905 |
rs1533034 | snp | C/G | 0.426047 | 0.177503 | intron-variant | EPN2 | GRCh38.p7 | 17:19249862 | aaacgggttcccccc[C/G]agagcctccagcagg | 22905 |
rs1543953 | snp | A/G | | | intron-variant | EPN2 | GRCh38.p7 | 17:19291382 | CATTCCACTCCCTGA[A/G]AAATCCTGTTTCCCC | 22905 |
rs1567350 | snp | C/T | 0.411914 | 0.190483 | intron-variant | EPN2 | GRCh38.p7 | 17:19290716 | ctttttctttttttt[C/T]ttttttttttttttt | 22905 |
rs1962057 | snp | C/G | | | intron-variant | EPN2 | GRCh38.p7 | 17:19291477 | gagtctcgctctttc[C/G]cccaggctggactgc | 22905 |
rs1962058 | snp | C/G | | | intron-variant | EPN2 | GRCh38.p7 | 17:19291583 | gctgggactacaggc[C/G]cccgccactgcgccc | 22905 |
rs1969161 | snp | C/T | 0.465473 | 0.126772 | intron-variant | EPN2 | GRCh38.p7 | 17:19291499 | agtgagccaagatag[C/T]gccactgcagtccag | 22905 |
rs1969162 | snp | G/T | | | intron-variant | EPN2 | GRCh38.p7 | 17:19291410 | AATGGCTGATAACCG[G/T]GGATAGCCTTGCCAT | 22905 |
rs2013949 | snp | G/T | 0.432944 | 0.170387 | intron-variant | EPN2 | GRCh38.p7 | 17:19239232 | TGAACCCAGGAGGCG[G/T]AGGTTTCGGTGAGCC | 22905 |
rs2136306 | snp | C/T | 0.220246 | 0.248223 | intron-variant | EPN2 | GRCh38.p7 | 17:19250220 | GTAATCCCAGCTACT[C/T]GGGAGGCTGAGGCAG | 22905 |
rs2271237 | snp | C/G | 0.219947 | 0.248187 | intron-variant, nc-transcript-variant | EPN2, EPN2-IT1 | GRCh38.p7 | 17:19274215 | CTTAAGAGAGTGGCA[C/G]CCCCTCAGCTCTGCC | 22905 |
rs2296979 | snp | A/G | 0.174932 | 0.238463 | intron-variant | EPN2 | GRCh38.p7 | 17:19329783 | TTCTTAGAATTAGAA[A/G]CTTCAGGCTCCCAAG | 22905 |
rs2296980 | snp | A/G | 0.119978 | 0.213528 | intron-variant | EPN2 | GRCh38.p7 | 17:19329720 | GGGTTTTGAAAGCTG[A/G]TTATTATTTCTGCAA | 22905 |
rs2296981 | snp | C/G | 0.470043 | 0.118664 | intron-variant | EPN2 | GRCh38.p7 | 17:19310022 | TGGGCAGTCAATGCA[C/G]TGCAGACCTGCCTGG | 22905 |
rs3760348 | snp | A/G | 0.17461 | 0.238362 | intron-variant | EPN2 | GRCh38.p7 | 17:19282115 | CCAACCAAACACATC[A/G]TCTATCCCCTCTCTT | 22905 |
rs3760349 | snp | A/G | | | intron-variant, utr-variant-5-prime | EPN2 | GRCh38.p7 | 17:19281970 | CTTAGCACTGTGCCC[A/G]ACACAGAAATGAACA | 22905 |
rs3760350 | snp | A/G | 0.0520825 | 0.152737 | intron-variant | EPN2 | GRCh38.p7 | 17:19281900 | CCTGCCCTCAAGAAG[A/G]CCACAGTCTGGCAGG | 22905 |
rs3785774 | snp | A/C | 0.219947 | 0.248187 | intron-variant | EPN2 | GRCh38.p7 | 17:19333094 | GTTCCACCCAGGGAA[A/C]CACCTCCCCTGGGGG | 22905 |
rs3785775 | snp | A/C | 0.122064 | 0.214785 | intron-variant | EPN2 | GRCh38.p7 | 17:19323217 | CTCTGGAATCCCCCC[A/C]TTGACTTTTAGATCA | 22905 |
rs3785776 | snp | C/T | 0.0422008 | 0.138995 | intron-variant | EPN2 | GRCh38.p7 | 17:19322338 | CCAAGCTTGCCCCGG[C/T]GATGGGGGCCTGGCC | 22905 |
rs3785777 | snp | C/T | 0.174932 | 0.238463 | intron-variant | EPN2 | GRCh38.p7 | 17:19322147 | TTCCATCCAGAAGCT[C/T]CTTCTGACACTTCAC | 22905 |
rs3785778 | snp | A/G | 0.219947 | 0.248187 | intron-variant | EPN2 | GRCh38.p7 | 17:19322111 | GTCTTCCAGTGTCTC[A/G]TGCAGATCGTCCTCC | 22905 |
rs3785779 | snp | C/T | 0.219947 | 0.248187 | intron-variant | EPN2 | GRCh38.p7 | 17:19316681 | CTACAAATTGAAATA[C/T]ACACATACATACACA | 22905 |
rs3785780 | snp | A/T | 0.219947 | 0.248187 | intron-variant | EPN2 | GRCh38.p7 | 17:19316446 | CACTGAGCCTGTCCC[A/T]AACCTATTAACAATG | 22905 |
rs3785781 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | EPN2 | GRCh38.p7 | 17:19314443 | ACTCCACCACTCCGT[A/G]CCCCTCTGCTTCTCA | 22905 |
rs3785782 | snp | A/C | 0.219947 | 0.248187 | intron-variant | EPN2, EPN2-AS1 | GRCh38.p7 | 17:19303281 | CCTCAGCGTGAGATG[A/C]TGCTGCTAATTTCCC | 22905 |
rs3785783 | snp | A/C | 0.123105 | 0.215401 | intron-variant | EPN2, EPN2-AS1 | GRCh38.p7 | 17:19297649 | CAAGTGAAGGGCTAC[A/C]GCAGCTCCATAGTTT | 22905 |
rs3785784 | snp | C/T | 0.309154 | 0.242901 | intron-variant | EPN2 | GRCh38.p7 | 17:19292118 | GAAGCACTTCTGACA[C/T]GCTGGCTGGGTTTGG | 22905 |
rs3785785 | snp | A/G | 0.122411 | 0.214991 | intron-variant | EPN2 | GRCh38.p7 | 17:19291950 | TGTGTCTGTGTGTGC[A/G]CATGCTTCAGCTCTA | 22905 |
rs3785786 | snp | A/C | 0.0926964 | 0.194308 | intron-variant | EPN2 | GRCh38.p7 | 17:19291612 | TCTACAAAAAACACA[A/C]AAAAAAATTAGCCGG | 22905 |
rs3785787 | snp | C/T | 0.308908 | 0.242961 | intron-variant | EPN2 | GRCh38.p7 | 17:19287629 | CGGCATCATTCTGAC[C/T]TTCCCACTGCTGATT | 22905 |
rs3785788 | snp | A/G | 0.219648 | 0.248151 | intron-variant | EPN2 | GRCh38.p7 | 17:19287352 | GCATGAGAAATCTTC[A/G]AAGAAAAAAATACTC | 22905 |
rs3803839 | snp | A/G | 0.0520825 | 0.152737 | utr-variant-3-prime | EPN2, B9D1 | GRCh38.p7 | 17:19335797 | AGGTGAGGACAGTAG[A/G]AGTTTGGAAGAGGGA | 22905 |
rs3826405 | snp | A/G | 0.174932 | 0.238463 | intron-variant | EPN2 | GRCh38.p7 | 17:19313604 | GTTCCTTCAGCTGGG[A/G]CGCTGGGTGTAACGC | 22905 |
rs3837831 | in-del | -/T | 0.219947 | 0.248187 | intron-variant | EPN2 | GRCh38.p7 | 17:19322597 | ACACACCCCCATGCT[-/T]GGCTGATTTTTTTAT | 22905 |
rs3837832 | in-del | -/G | 0.422473 | 0.180978 | intron-variant | EPN2 | GRCh38.p7 | 17:19314333 | GCCTTCCTCCAAAAT[-/G]CTTACCTCACACTCC | 22905 |
rs3837833 | in-del | -/C | 0.179744 | 0.239925 | intron-variant | EPN2 | GRCh38.p7 | 17:19314317 | CTTACCTCACACTCC[-/C]TGGACTCCTGTACTG | 22905 |
rs3837834 | in-del | -/C | 0.0520825 | 0.152737 | intron-variant | EPN2, EPN2-AS1 | GRCh38.p7 | 17:19303595 | GTGACGTCATACCCC[-/C]ATCTATGACAGTCCC | 22905 |
rs3837835 | in-del | -/CA | | | intron-variant | EPN2, EPN2-AS1 | GRCh38.p7 | 17:19297476 | GCTGGCCCTCACACA[-/CA]TGAGTGCAGAAAGTG | 22905 |
rs3862148 | snp | A/C | 0.130008 | 0.219321 | intron-variant | EPN2 | GRCh38.p7 | 17:19265599 | GGAGGAGGCAAGTAG[A/C]CATCGGCCAAGTCCA | 22905 |
rs3894909 | snp | A/G | | | intron-variant | EPN2 | GRCh38.p7 | 17:19264722 | GGAGGAAGGGAGAGA[A/G]AAAGGGGGGAGTGTG | 22905 |
rs3902291 | snp | A/T | | | intron-variant | EPN2 | GRCh38.p7 | 17:19265495 | TGCCTTTCTGCCCCA[A/T]GCAGAGCAGTGCATG | 22905 |
rs4073003 | snp | A/G | 0.468047 | 0.122292 | intron-variant | EPN2 | GRCh38.p7 | 17:19244992 | TGTACCCTCACAACA[A/G]CCCCAAGAGGTAGGC | 22905 |
rs4079585 | snp | A/G | 0.219648 | 0.248151 | intron-variant | EPN2 | GRCh38.p7 | 17:19289274 | acatgatgaaacctc[A/G]tctctactaaaaata | 22905 |
rs4079586 | snp | C/T | 0.178465 | 0.239547 | intron-variant | EPN2 | GRCh38.p7 | 17:19289124 | gcactccagcctggg[C/T]gacagtgcaagattc | 22905 |
rs4079587 | snp | C/T | 0.219648 | 0.248151 | intron-variant | EPN2 | GRCh38.p7 | 17:19289118 | cagcctgggtgacag[C/T]gcaagattctgtctc | 22905 |
rs4079588 | snp | A/G | 0.219947 | 0.248187 | intron-variant | EPN2 | GRCh38.p7 | 17:19289117 | agcctgggtgacagt[A/G]caagattctgtctca | 22905 |
rs4268816 | snp | C/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | EPN2 | GRCh38.p7 | 17:19237370 | AGGGCGCGCGCACGC[C/G]TCCGGCGCGCCCCCT | 22905 |
rs4273100 | snp | C/T | 0.327211 | 0.237778 | intron-variant | EPN2 | GRCh38.p7 | 17:19250104 | AAACTGAATTTTTTT[C/T]TTTTTTTCAGACGGA | 22905 |
rs4312361 | snp | C/G | 0.178785 | 0.239642 | intron-variant | EPN2 | GRCh38.p7 | 17:19252985 | gggttataggcatga[C/G]ccaccacacccagtc | 22905 |
rs4417595 | snp | A/G | 0.175254 | 0.238565 | intron-variant | EPN2 | GRCh38.p7 | 17:19253019 | ATGTTAAGGatttaa[A/G]agtgaacaattctgt | 22905 |
rs4493123 | snp | A/G | 0.0615418 | 0.164267 | intron-variant | EPN2 | GRCh38.p7 | 17:19332661 | ATCCAGCCCCTTGGC[A/G]CCCCTCAGCCTGTAG | 22905 |
rs4608393 | snp | G/T | 0.128976 | 0.218754 | intron-variant | EPN2 | GRCh38.p7 | 17:19267238 | GGGAGTGAGGACGTG[G/T]GTGGTGACCACTAAT | 22905 |
rs4924777 | snp | G/T | 0.0023933 | 0.0345097 | intron-variant | EPN2 | GRCh38.p7 | 17:19252227 | TCTGAGGGGCCTTTT[G/T]TGTGCCTTCTGTGAA | 22905 |
rs4924778 | snp | A/G | 0.219947 | 0.248187 | intron-variant | EPN2 | GRCh38.p7 | 17:19260377 | TTTATAGCCTTCCAA[A/G]TGTGAAGCTGGAGGG | 22905 |
rs4924779 | snp | C/T | 0.345037 | 0.231231 | intron-variant | EPN2 | GRCh38.p7 | 17:19280114 | AAAGTGCTAGGATTA[C/T]AGGTGTGAGCCACCA | 22905 |
rs4924780 | snp | C/G | 0.174288 | 0.23826 | intron-variant | EPN2 | GRCh38.p7 | 17:19280421 | TCATGAATGAAAAAC[C/G]TAATTACATCAAATG | 22905 |
rs4924781 | snp | C/T | 0.219947 | 0.248187 | intron-variant | EPN2 | GRCh38.p7 | 17:19324474 | gagtagctgggacta[C/T]gggcatgtgctacca | 22905 |
rs4924956 | snp | C/T | 0.163564 | 0.234582 | intron-variant | EPN2 | GRCh38.p7 | 17:19239906 | GTTATCACTAACCCT[C/T]TTCCATAATGAGCGG | 22905 |
rs4924957 | snp | G/T | 0.175254 | 0.238565 | intron-variant | EPN2 | GRCh38.p7 | 17:19243817 | gtgctgggattacag[G/T]tatgagccactgtgc | 22905 |
rs4924958 | snp | G/T | 0.178785 | 0.239642 | intron-variant | EPN2 | GRCh38.p7 | 17:19243881 | aagtgctgctgatgc[G/T]gccagtctagggacc | 22905 |
rs4924960 | snp | A/G/T | 0.175254 | 0.238565 | intron-variant | EPN2 | GRCh38.p7 | 17:19254676 | GTAGTCTGATGGGCA[A/G/T]ACCCCACCCTTCTTA | 22905 |
rs4924961 | snp | A/G | 0.220246 | 0.248223 | intron-variant | EPN2 | GRCh38.p7 | 17:19258714 | CTGGGGGCCCTTGGC[A/G]TCGATGCTGCGTGTG | 22905 |
rs4924963 | snp | A/T | 0.0861826 | 0.188849 | intron-variant | EPN2 | GRCh38.p7 | 17:19266410 | TATTTATTTTATTTT[A/T]TTTTTTTTTTGAGAC | 22905 |
rs4924964 | snp | C/T | 0.174932 | 0.238463 | intron-variant | EPN2 | GRCh38.p7 | 17:19266488 | gcccactgcaagctc[C/T]gcctcccgggttcgt | 22905 |
rs4924965 | snp | A/T | 0 | 0 | intron-variant | EPN2 | GRCh38.p7 | 17:19267555 | CTTTTTTTTTTTTTT[A/T]AAAAAAAGACAGAGT | 22905 |
rs4924966 | snp | C/T | 0.219947 | 0.248187 | intron-variant | EPN2 | GRCh38.p7 | 17:19267693 | GATTACAGGTGCGCA[C/T]TACCACACCCGGCTA | 22905 |
rs4924967 | snp | G/T | 0.425894 | 0.177655 | intron-variant | EPN2 | GRCh38.p7 | 17:19268883 | CAGGCTGGGGAAGAC[G/T]GCATACTGTTCAGTT | 22905 |
rs4924968 | snp | C/T | 0.179105 | 0.239737 | intron-variant | EPN2 | GRCh38.p7 | 17:19276877 | CACCTCTAACATCCA[C/T]ATCTGGTGTAGAGGT | 22905 |
rs4924969 | snp | C/G | 0.219349 | 0.248114 | intron-variant | EPN2 | GRCh38.p7 | 17:19280001 | taccaccacactcag[C/G]taattttttgtattt | 22905 |
rs4924970 | snp | C/G | 0.219648 | 0.248151 | intron-variant | EPN2 | GRCh38.p7 | 17:19280836 | gttgagggctcagtc[C/G]cacaagaacactccc | 22905 |
rs4924971 | snp | C/T | 0.219349 | 0.248114 | intron-variant | EPN2 | GRCh38.p7 | 17:19285068 | TATTTCTCTCAAGGA[C/T]CCTCTTACCAACCCC | 22905 |
rs4924972 | snp | G/T | 0.173965 | 0.238157 | intron-variant | EPN2 | GRCh38.p7 | 17:19286298 | TTTTTGCTTCCCAAT[G/T]AACTGCTGTTCTTCC | 22905 |
rs4924973 | snp | A/G | 0.175576 | 0.238665 | intron-variant | EPN2 | GRCh38.p7 | 17:19292603 | CACACCCTCAGAGGC[A/G]GCAGATTTATTGACA | 22905 |
rs4924975 | snp | A/G | 0.174288 | 0.23826 | intron-variant | EPN2 | GRCh38.p7 | 17:19296066 | CTTAGTCCAGCTTGC[A/G]GTGGGATAACCAGAG | 22905 |
rs4924976 | snp | A/G | 0.219349 | 0.248114 | intron-variant, downstream-variant-500B | EPN2, EPN2-AS1 | GRCh38.p7 | 17:19296261 | GTTCAAGCAATTCTC[A/G]TGTCTCAGCCTCCCG | 22905 |
rs4924978 | snp | A/C | 0.219947 | 0.248187 | intron-variant, nc-transcript-variant | EPN2, EPN2-AS1 | GRCh38.p7 | 17:19297186 | CCCTGGCTGCATAGA[A/C]TGACCACTGGCAGTC | 22905 |
rs4924979 | snp | A/C | 0.403684 | 0.197183 | intron-variant | EPN2, EPN2-AS1 | GRCh38.p7 | 17:19301295 | CTTCACTAATTATAT[A/C]TTCACTAATTACATC | 22905 |
rs4924980 | snp | C/T | 0.425894 | 0.177655 | intron-variant | EPN2, EPN2-AS1 | GRCh38.p7 | 17:19301550 | CTGGCCCAAGTTCCC[C/T]AGACCAGTCAAGTGG | 22905 |
rs4924981 | snp | A/G | 0.174932 | 0.238463 | intron-variant, upstream-variant-2KB | EPN2, EPN2-AS1 | GRCh38.p7 | 17:19306856 | TTGGTAGTAAATGAA[A/G]GATGTCGTAAGTGCA | 22905 |
rs4924982 | snp | A/G | 0.178465 | 0.239547 | intron-variant | EPN2 | GRCh38.p7 | 17:19324732 | aaaaagatataaTGA[A/G]GTTAGAATAGCATTA | 22905 |
rs4924983 | snp | C/T | 0.17461 | 0.238362 | intron-variant | EPN2 | GRCh38.p7 | 17:19325953 | agtatacaaaagttt[C/T]tctgcataacaataa | 22905 |