SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs953338 | snp | C/G/T | 1.64727e-05 | 0.00286986 | missense | PRPF8 | GRCh38.p7 | 17:1680956 | ACATGGTGTGGAAGA[C/G/T]TGTTGTACAAGTAAG | 10594 |
rs1043391 | snp | A/G | 0 | 0 | missense | PRPF8 | GRCh38.p7 | 17:1683600 | CCAGAACATGTCAGG[A/G]AGATCATTCGAGACC | 10594 |
rs1043392 | snp | C/T | 0 | 0 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1682212 | GATTCGGGATGTGCC[C/T]GTGCTGTACCACATC | 10594 |
rs1043393 | snp | C/G | 0 | 0 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1680994 | CCGGCAGCCTATCCG[C/G]ACTGAGTACAAGATT | 10594 |
rs1043394 | snp | A/G | 0 | 0 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1680795 | ATTCATCAAAACTGA[A/G]GATCCTGACTTGCCA | 10594 |
rs1043396 | snp | C/T | 0 | 0 | missense | PRPF8 | GRCh38.p7 | 17:1675986 | AGGCCTACGATAACC[C/T]CCACGAGGCGCTGTC | 10594 |
rs1043397 | snp | A/C | 0 | 0 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1675964 | GGCGCTGTCCCGCAT[A/C]AAGCGTCACCTCCTC | 10594 |
rs1043398 | snp | A/C/T | 1.65954e-05 | 0.00288053 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1674621 | GTTTGCCTCATTCAT[A/C/T]GTGCAGTATTATGGC | 10594 |
rs1043399 | snp | A/C | 0 | 0 | missense | PRPF8 | GRCh38.p7 | 17:1662051 | CTGGTGAAGTGTGAG[A/C]ACAAAATCCAGACAC | 10594 |
rs1043401 | snp | A/G/T | 3.3018e-05 | 0.00406299 | missense | PRPF8 | GRCh38.p7 | 17:1661645 | GTCTGGGCTGAGTAC[A/G/T]CACTCAAGAGGCAAG | 10594 |
rs1127259 | snp | A/G | | | missense | PRPF8 | GRCh38.p7 | 17:1676343 | ATCACAGCGGAGGAA[A/G]CAGTGGCAGTATATA | 10594 |
rs1127260 | snp | A/G | | | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1661634 | GTACGCACTCAAGAG[A/G]CAAGAGGCCATTGCT | 10594 |
rs1802490 | snp | A/G | | | missense, upstream-variant-2KB | PRPF8, RILP | GRCh38.p7 | 17:1651424 | GAGAAGACCATTATC[A/G]TCACATGCAGCTTCA | 10594 |
rs1802491 | snp | C/T | 0.200341 | 0.245018 | synonymous-codon, upstream-variant-2KB | PRPF8, RILP | GRCh38.p7 | 17:1651476 | GGATGTCACCACCCA[C/T]GCCAAGATCATGGCT | 10594 |
rs2301592 | snp | A/G | 0.392511 | 0.205404 | upstream-variant-2KB | PRPF8 | GRCh38.p7 | 17:1685015 | GTGTGGTCGGGGTGA[A/G]GCCCCGCCTCCTCCA | 10594 |
rs2301593 | snp | C/G | 0.399611 | 0.200291 | upstream-variant-2KB | PRPF8 | GRCh38.p7 | 17:1685104 | TCGCACTGTGAGAGA[C/G]CGAAGTCTAAAGGGT | 10594 |
rs3814969 | snp | A/G | 0.149811 | 0.229046 | intron-variant | PRPF8 | GRCh38.p7 | 17:1662167 | ATCTAAAGGTAGTAG[A/G]AAAAAAAGTAAATTA | 10594 |
rs4790262 | snp | C/T | 0 | 0 | intron-variant | PRPF8 | GRCh38.p7 | 17:1662422 | ggcaaaaccctgttt[C/T]tactaaaaatacaag | 10594 |
rs7206947 | snp | A/T | 0.146985 | 0.227789 | intron-variant | PRPF8 | GRCh38.p7 | 17:1659022 | ATTATTTAtttattt[A/T]ttattattattattt | 10594 |
rs7212918 | snp | C/T | 0.147321 | 0.227941 | intron-variant | PRPF8 | GRCh38.p7 | 17:1652457 | ttggccaagctggtc[C/T]tgaactcctgacctc | 10594 |
rs7223663 | snp | C/T | 0.412249 | 0.190198 | intron-variant | PRPF8 | GRCh38.p7 | 17:1684345 | TGACTTGATGAAAAA[C/T]TAACTGGAAATAACA | 10594 |
rs7223681 | snp | C/T | 0.149665 | 0.228982 | intron-variant | PRPF8 | GRCh38.p7 | 17:1674090 | CGCAGCGGCGCAATC[C/T]CGGCTCACTGCAAGC | 10594 |
rs7501840 | snp | C/T | 0.411242 | 0.191052 | upstream-variant-2KB | PRPF8 | GRCh38.p7 | 17:1685636 | AAAAGTCTGAAATTC[C/T]GTGGAGGGTGCAGAG | 10594 |
rs7503397 | snp | A/G | 0.340231 | 0.233149 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1681030 | AATCTTGTTAATATC[A/G]TTGAATTCATTCCAG | 10594 |
rs7503846 | snp | C/G | 0.312593 | 0.242037 | intron-variant | PRPF8 | GRCh38.p7 | 17:1652976 | tcttgctctgttgcc[C/G]aggctggagtgcagt | 10594 |
rs8064384 | snp | A/G | 0.145305 | 0.227022 | intron-variant | PRPF8 | GRCh38.p7 | 17:1664940 | aggcgggtgaatcac[A/G]aggtcacgagttcaa | 10594 |
rs8066413 | snp | C/G | 0.387473 | 0.209363 | intron-variant | PRPF8 | GRCh38.p7 | 17:1674828 | CAGGCTGAGAGTGCA[C/G]TGGCGCAATCTCAGC | 10594 |
rs8068601 | snp | C/G | 0.374 | 0.217081 | intron-variant | PRPF8 | GRCh38.p7 | 17:1671238 | TTCCAGACTGGGCTA[C/G]AGCAATCACTAACTC | 10594 |
rs8070091 | snp | A/G | 0.386694 | 0.20932 | intron-variant | PRPF8 | GRCh38.p7 | 17:1674738 | CCCAGGATTCTCCAG[A/G]GTTAACCTCTTTTGT | 10594 |
rs8071756 | snp | A/G | 0.386884 | 0.209196 | intron-variant | PRPF8 | GRCh38.p7 | 17:1671048 | GGCTCTCCACTATTT[A/G]TCCAGCCTCATCTCT | 10594 |
rs8073857 | snp | A/G | 0.398714 | 0.200958 | intron-variant | PRPF8 | GRCh38.p7 | 17:1674897 | ctgcctcagcctccc[A/G]agtagctgggattac | 10594 |
rs8076353 | snp | C/T | 0.146985 | 0.227789 | intron-variant | PRPF8 | GRCh38.p7 | 17:1671112 | ACCTTGAACTTTCCA[C/T]GGTCCCATGTACACA | 10594 |
rs8076644 | snp | C/T | 0.387263 | 0.208947 | intron-variant | PRPF8 | GRCh38.p7 | 17:1671254 | AGCAATCACTAACTC[C/T]AGTGCTCTCACAGAT | 10594 |
rs8078639 | snp | G/T | 0.0244538 | 0.107838 | intron-variant | PRPF8 | GRCh38.p7 | 17:1664570 | ccaactctttggaag[G/T]ctgaggcaggaggat | 10594 |
rs8079621 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | PRPF8 | GRCh38.p7 | 17:1659276 | gacaatctgcccacc[A/G]cggcctcccaaagtg | 10594 |
rs8082026 | snp | A/C | 0.0970103 | 0.197722 | intron-variant | PRPF8 | GRCh38.p7 | 17:1669350 | gacttggtgattcac[A/C]caccttggcctccca | 10594 |
rs9747855 | snp | A/G | 0.377582 | 0.214995 | upstream-variant-2KB | PRPF8 | GRCh38.p7 | 17:1685248 | CCATCACTGTCTACC[A/G]AGGACGAGGGATAAA | 10594 |
rs9889459 | snp | A/G | 0.139201 | 0.224106 | intron-variant | PRPF8 | GRCh38.p7 | 17:1656353 | CCTAACCCTAAACCC[A/G]CTCCTCCTCCAGCGA | 10594 |
rs9892486 | snp | C/T | 0.150667 | 0.229419 | intron-variant | PRPF8 | GRCh38.p7 | 17:1680613 | ATAGCTCAAGGGGAA[C/T]ACTTAGCAAGACGGA | 10594 |
rs9894268 | snp | C/T | 0.352287 | 0.228117 | intron-variant | PRPF8 | GRCh38.p7 | 17:1664030 | aactcacagctgtag[C/T]tggatctttctctca | 10594 |
rs9895732 | snp | C/G | 0.402277 | 0.198272 | upstream-variant-2KB | PRPF8 | GRCh38.p7 | 17:1686772 | gcctacctcagcctc[C/G]caaattgctgggatt | 10594 |
rs9895914 | snp | A/G | 0.418974 | 0.184249 | upstream-variant-2KB | PRPF8 | GRCh38.p7 | 17:1686791 | attgctgggatttca[A/G]gcgtgagccaccgtg | 10594 |
rs9896403 | snp | C/G | 0.34146 | 0.23267 | intron-variant | PRPF8 | GRCh38.p7 | 17:1654587 | GCTTCCCATACTATT[C/G]GAAGACACTGCTGTA | 10594 |
rs9897054 | snp | A/G | 0.373397 | 0.217424 | intron-variant | PRPF8 | GRCh38.p7 | 17:1671590 | ggtgtggtggctcac[A/G]cctgtaatcccagta | 10594 |
rs9900929 | snp | A/G | 0.165853 | 0.235413 | intron-variant | PRPF8 | GRCh38.p7 | 17:1671146 | TAGTTACATCGCCAC[A/G]CTTCTGGCTAAAGGA | 10594 |
rs9902534 | snp | A/G | 0.302031 | 0.244526 | intron-variant | PRPF8 | GRCh38.p7 | 17:1678911 | AAAAACAGACAGAAC[A/G]TGAATGAGCAATGGA | 10594 |
rs9904900 | snp | C/T | 0.351635 | 0.228408 | intron-variant | PRPF8 | GRCh38.p7 | 17:1664395 | aagcaatgtaaccaa[C/T]tgactggacctaatg | 10594 |
rs9908141 | snp | C/T | 0.414576 | 0.188188 | intron-variant | PRPF8 | GRCh38.p7 | 17:1682663 | GTCAGGCCACTAGAC[C/T]GCACACTGCAGAAAG | 10594 |
rs9909838 | snp | C/T | 0.353587 | 0.22753 | intron-variant | PRPF8 | GRCh38.p7 | 17:1666035 | agccgggtgtggtgg[C/T]gggcacctgtagtcc | 10594 |
rs9909858 | snp | C/T | 0.352287 | 0.228117 | intron-variant | PRPF8 | GRCh38.p7 | 17:1666059 | gtagtcccagctact[C/T]gggagctgaagcagg | 10594 |
rs9910056 | snp | A/G | 0.33875 | 0.233717 | intron-variant | PRPF8 | GRCh38.p7 | 17:1664090 | ggctagagtgcaatg[A/G]caccatctccactca | 10594 |
rs10641240 | in-del | -/GAA | | | intron-variant | PRPF8 | GRCh38.p7 | 17:1670953 | AAAAAAAAAGAAGAA[-/GAA]AAACACATCTGACAA | 10594 |
rs11078563 | snp | C/T | 0.339982 | 0.233245 | intron-variant | PRPF8 | GRCh38.p7 | 17:1673075 | CTGGGCATGACGGCC[C/T]TGTACCTTGGTGAAG | 10594 |
rs11078564 | snp | C/T | 0.373196 | 0.217538 | intron-variant | PRPF8 | GRCh38.p7 | 17:1673268 | CAACTGTGCCCACCA[C/T]TCAAGTCTTTCCACC | 10594 |
rs11078565 | snp | C/G | 0.339817 | 0.233309 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1677635 | TTGGCGAGTCTGGCT[C/G]TTTTTCATGCGTGGC | 10594 |
rs11559302 | snp | A/G | 0 | 0 | utr-variant-3-prime, upstream-variant-2KB | PRPF8, RILP | GRCh38.p7 | 17:1650715 | CACAGACAGAGGGAA[A/G]GAGGCCAAACTGCTG | 10594 |
rs11559303 | snp | A/T | | | stop-gained | PRPF8 | GRCh38.p7 | 17:1658543 | GACACCAACGTCTAC[A/T]GAGTGACTATTCACA | 10594 |
rs11559304 | snp | A/G/T | 8.23716e-05 | 0.00641709 | missense | PRPF8 | GRCh38.p7 | 17:1681664 | GCTCCACTTACCAGC[A/G/T]CTGGCAGTTCACACT | 10594 |
rs11559305 | snp | C/T | 0.304146 | 0.244066 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1681836 | TATGACCACCAGCCG[C/T]TGAGGGACAGCAGGA | 10594 |
rs11559306 | snp | C/T | 0 | 0 | missense | PRPF8 | GRCh38.p7 | 17:1656451 | CTTAAAGCCACTGAG[C/T]CCCAGATGGTTCTCT | 10594 |
rs11559307 | snp | C/T | 0 | 0 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1660489 | CTCTCTCATCCAGAT[C/T]TTCCGAGCTCACTTG | 10594 |
rs11559308 | snp | A/T | 0.000774421 | 0.0196624 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1661037 | CATTCTGGAACACAC[A/T]CTCTTTAAGGGCACT | 10594 |
rs11559309 | snp | A/G | 0.0563042 | 0.158057 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1653617 | ATCTGACGACATCAA[A/G]GAGACTGGCTACACC | 10594 |
rs11651409 | snp | A/G | | | intron-variant | PRPF8 | GRCh38.p7 | 17:1669193 | ctcactgcaacctct[A/G]cctcccgggttcaag | 10594 |
rs11652160 | snp | A/C | 0.0206718 | 0.0995418 | intron-variant | PRPF8 | GRCh38.p7 | 17:1674691 | ATGTCCTAGAAAGAA[A/C]GAACTACAATTCTTA | 10594 |
rs11652619 | snp | C/T | | | intron-variant | PRPF8 | GRCh38.p7 | 17:1669192 | gctcactgcaacctc[C/T]acctcccgggttcaa | 10594 |
rs11867415 | snp | A/G | 0.33693 | 0.2344 | intron-variant | PRPF8 | GRCh38.p7 | 17:1668524 | cccgccacgacatcc[A/G]gctaattttttgtat | 10594 |
rs11869451 | snp | A/G | 0.336702 | 0.234484 | intron-variant | PRPF8 | GRCh38.p7 | 17:1668609 | ACTCGTGATCCACCC[A/G]CCTCGGCCTCCCAAA | 10594 |
rs11869578 | snp | A/G | 0.325563 | 0.238307 | intron-variant | PRPF8 | GRCh38.p7 | 17:1656056 | CTCCCGAGTAGCTGG[A/G]ACTACAGGTGCATCC | 10594 |
rs12945239 | snp | C/G | 0.00438332 | 0.0466095 | upstream-variant-2KB | PRPF8 | GRCh38.p7 | 17:1686097 | TTAATGCTGGGTGTT[C/G]TAAAGGTCCCTACAG | 10594 |
rs12952876 | snp | C/T | 0.161596 | 0.233848 | upstream-variant-2KB | PRPF8 | GRCh38.p7 | 17:1685084 | CGTGTGATGGGCTCC[C/T]GGCGTCGCACTGTGA | 10594 |
rs16950614 | snp | C/T | 0.14665 | 0.227637 | intron-variant | PRPF8 | GRCh38.p7 | 17:1654165 | ACAGGAAGTGTGAAA[C/T]GGAGGTGCACTAACA | 10594 |
rs16950627 | snp | C/G | 0.0232847 | 0.105357 | intron-variant | PRPF8 | GRCh38.p7 | 17:1654287 | AAAACAATGCTCTGG[C/G]ATGGAACTGTTCTCA | 10594 |
rs16950750 | snp | C/T | 0.0232847 | 0.105357 | intron-variant | PRPF8 | GRCh38.p7 | 17:1658028 | AATGATTTTTGATAG[C/T]CCTGTTCAAGGTTAG | 10594 |
rs16950924 | snp | A/G | 0.0150606 | 0.0854603 | intron-variant | PRPF8 | GRCh38.p7 | 17:1666857 | CTCGCATGTCCACAG[A/G]ATGAGACAACCAGGC | 10594 |
rs16950948 | snp | C/T | 0.446641 | 0.154377 | intron-variant | PRPF8 | GRCh38.p7 | 17:1670067 | GGAATGTCTCACTCA[C/T]ACTTTTTAAATCAAA | 10594 |
rs16951014 | snp | C/T | 0.153 | 0.230415 | intron-variant | PRPF8 | GRCh38.p7 | 17:1672213 | TAGAGATATGAAGGT[C/T]GGAATGCAAGAAAAA | 10594 |
rs16951071 | snp | A/G | 0.00851747 | 0.0647007 | intron-variant | PRPF8 | GRCh38.p7 | 17:1674428 | CAAGGCTAGGAATCC[A/G]GGAAAGCCCTCACCT | 10594 |
rs16951086 | snp | C/T | 0.386313 | 0.209568 | intron-variant | PRPF8 | GRCh38.p7 | 17:1675454 | ATTCCACGTATTCAT[C/T]TGGATTGCTTTGACT | 10594 |
rs16951135 | snp | A/G | 0.00808232 | 0.0630542 | intron-variant | PRPF8 | GRCh38.p7 | 17:1677707 | GCCCTACGATCCCAA[A/G]CAGAAGTTAAGAATA | 10594 |
rs16951240 | snp | A/C/T | 0.0126979 | 0.078662 | upstream-variant-2KB | PRPF8 | GRCh38.p7 | 17:1684930 | GATGGATTAGTGAGA[A/C/T]GACCAATTAGAGTTG | 10594 |
rs17554721 | snp | A/G | 0.0283406 | 0.115616 | upstream-variant-2KB | PRPF8 | GRCh38.p7 | 17:1685176 | AGTACTGCATTGCAT[A/G]TACACATTGATGACA | 10594 |
rs17761292 | snp | A/G | 0.134802 | 0.221877 | intron-variant | PRPF8 | GRCh38.p7 | 17:1681761 | CCTACTGATCTCCCA[A/G]GACTCCTTCTGCATT | 10594 |
rs28369495 | snp | A/C | 0.123105 | 0.215401 | intron-variant | PRPF8 | GRCh38.p7 | 17:1669554 | CTTCAACTGACAAAC[A/C]GATTGTCCTTGCTGT | 10594 |
rs28370295 | snp | C/T | 0.337158 | 0.234315 | intron-variant | PRPF8 | GRCh38.p7 | 17:1669124 | TACTTTTCTTTTCTT[C/T]GAGACGGAGTCTTGC | 10594 |
rs28406039 | snp | A/G | 0.325799 | 0.238232 | intron-variant | PRPF8 | GRCh38.p7 | 17:1657563 | AGGCAGGAGAATGGC[A/G]TGAACCTGGGAGGCG | 10594 |
rs28469839 | snp | A/G | 0.33693 | 0.2344 | intron-variant | PRPF8 | GRCh38.p7 | 17:1666903 | AGGGGGGCCGGGTGC[A/G]GTGGCTCATGCCTGT | 10594 |
rs28495774 | snp | C/T | 0.127944 | 0.218179 | intron-variant | PRPF8 | GRCh38.p7 | 17:1669371 | TGGCCTCCCAAAGTG[C/T]TGGGATTACGGGCGT | 10594 |
rs28510937 | snp | A/G | 0.214239 | 0.247429 | intron-variant | PRPF8 | GRCh38.p7 | 17:1666957 | AGGCGGTTGGATCAT[A/G]AGGTCAGGAGTTTGA | 10594 |
rs28556319 | snp | C/T | 0.18989 | 0.242666 | intron-variant | PRPF8 | GRCh38.p7 | 17:1655665 | AGAGTCTTGCTCTGT[C/T]GCCCAGGCTGGAGTG | 10594 |
rs28573273 | snp | A/G | 0.12932 | 0.218944 | intron-variant | PRPF8 | GRCh38.p7 | 17:1659721 | TGACAGGCTCCAAGC[A/G]TAGCACTGGCTCCAA | 10594 |
rs28619088 | snp | A/G | 0.00835141 | 0.0640778 | intron-variant | PRPF8 | GRCh38.p7 | 17:1666552 | ACCCCATCTCAAAAA[A/G]AAAAAAAATCAATGC | 10594 |
rs28620466 | snp | A/G | 0.123452 | 0.215605 | intron-variant | PRPF8 | GRCh38.p7 | 17:1657231 | AAATGTAAAGGAAGA[A/G]AAACTGGCTGGACAG | 10594 |
rs28642363 | snp | A/G | 0.12932 | 0.218944 | intron-variant | PRPF8 | GRCh38.p7 | 17:1657785 | CATCCTGGCTAACAC[A/G]TTGAAACCCTGTCTC | 10594 |
rs28685670 | snp | A/G | 0.325799 | 0.238232 | intron-variant | PRPF8 | GRCh38.p7 | 17:1657405 | AATCCCAGCACTTTG[A/G]GAGGCCAAGGCGGGC | 10594 |
rs28708933 | snp | C/T | 0.339429 | 0.233457 | intron-variant | PRPF8 | GRCh38.p7 | 17:1657441 | ACGAGGTCAGGAGAT[C/T]GAGACCATCCTGGCC | 10594 |
rs28715427 | snp | C/T | 0.335307 | 0.235004 | intron-variant | PRPF8 | GRCh38.p7 | 17:1674396 | TTCAGAGGCAAAGCA[C/T]ATGCCTCAGTACCCT | 10594 |
rs28749238 | snp | A/G | 0.33875 | 0.233717 | intron-variant | PRPF8 | GRCh38.p7 | 17:1665415 | TGGTGGCAGGCGACT[A/G]TAGTCCCAGCTACTC | 10594 |
rs28897085 | snp | A/G | 0.352287 | 0.228117 | intron-variant | PRPF8 | GRCh38.p7 | 17:1665336 | CGAGGTCAGGAGATC[A/G]AGACCATCCCAGCTA | 10594 |
rs33965342 | snp | C/T | 0.335178 | 0.235042 | synonymous-codon | PRPF8 | GRCh38.p7 | 17:1675645 | CTTGTAAACAAGCAG[C/T]GGAGGTGGTTCTGTG | 10594 |