SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs1048113 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724613 | ctgggcaaaagagca[A/G]aacgccatctcaaaa | 348995 |
rs1048114 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724612 | tgggcaaaagagcaa[A/G]acgccatctcaaaaa | 348995 |
rs1048117 | snp | A/G | 0.0109286 | 0.0731087 | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724592 | catctcaaaaaaTAT[A/G]CATATATAAGGAGAT | 348995 |
rs1048137 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724611 | gggcaaaagagcaaa[A/G]cgccatctcaaaaaa | 348995 |
rs1057724 | snp | G/T | 0 | 0 | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149725825 | GCAGACAAGGATAAA[G/T]ATGGTTGGTAACACT | 348995 |
rs1129792 | snp | A/G | | | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724792 | agatcagcctggcca[A/G]catggcgaaaccccg | 348995 |
rs1129798 | snp | A/G | 0 | 0 | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724705 | tcccagctgcttggg[A/G]ggctgaggcaggaga | 348995 |
rs1129805 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724620 | ctccagcctgggcaa[A/G]agagcaaaacgccat | 348995 |
rs1129806 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724619 | tccagcctgggcaaa[A/G]gagcaaaacgccatc | 348995 |
rs1129820 | snp | A/G | 0 | 0 | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724660 | GGAGGCAGAGGTTGC[A/G]GTGACCCGGGATCGT | 348995 |
rs1138980 | snp | A/G | 0 | 0 | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149726234 | AATTTTAGTAGAGAC[A/G]GAGTTTCACCATGTT | 348995 |
rs1138982 | snp | A/G | 0 | 0 | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149726294 | CTCAGTCTCCTGAGT[A/G]GCTGGAACTACAGGT | 348995 |
rs1572229 | snp | A/T | 0.497091 | 0.0380279 | intron-variant | NUP43 | GRCh38.p7 | 6:149743841 | AAGAGCCATGAGTGC[A/T]AAGGAAATAAAATGT | 348995 |
rs3177640 | snp | A/G | 0 | 0 | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724682 | GCAGGAGAATTGCTC[A/G]AACCCGGGAGGCAGA | 348995 |
rs3763161 | snp | C/G | 0.491051 | 0.0662916 | upstream-variant-2KB | PCMT1, NUP43 | GRCh38.p7 | 6:149748255 | ACCTGGGAGGTGGAG[C/G]TTGCAATGAGCCAAG | 348995 |
rs4038372 | in-del | -/GTTA | 0.499816 | 0.0095829 | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724442 | TCCTATTGTATGTTA[-/GTTA]NNNACACACTGATGA | 348995 |
rs6927395 | snp | C/G | 0.150333 | 0.229274 | intron-variant | NUP43 | GRCh38.p7 | 6:149733909 | ggctcaccacaacct[C/G]tgcctcccaggttca | 348995 |
rs6942145 | snp | A/C | | | intron-variant | NUP43 | GRCh38.p7 | 6:149744449 | gaatcacttgaaccc[A/C]cgaggtggggttgca | 348995 |
rs9322215 | snp | C/T | 0.437118 | 0.165792 | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149725375 | GAGGCAGGTGGATCA[C/T]GAGGTCAGTTCAAGA | 348995 |
rs9322217 | snp | A/T | 0.499354 | 0.0179596 | intron-variant | NUP43 | GRCh38.p7 | 6:149744922 | ttatttattattatt[A/T]ttttttgagacagag | 348995 |
rs9383687 | snp | C/T | 0.00597247 | 0.0543191 | upstream-variant-2KB | NUP43 | GRCh38.p7 | 6:149747440 | aggtgtgcgccacca[C/T]gcctggctaattttt | 348995 |
rs9397507 | snp | C/T | | | intron-variant | NUP43 | GRCh38.p7 | 6:149732179 | aaagtgagacactgt[C/T]tgagaaaaaaaaaaa | 348995 |
rs9478291 | snp | A/G | 0.496382 | 0.0423778 | intron-variant, utr-variant-3-prime | NUP43 | GRCh38.p7 | 6:149729434 | TGACTGGAAGGCGGA[A/G]GGGAGAAGCAGCTCC | 348995 |
rs9478410 | snp | A/C | 0.0126979 | 0.078662 | intron-variant | NUP43 | GRCh38.p7 | 6:149741435 | cgcctttgcctccta[A/C]ggtgctgggattata | 348995 |
rs9479094 | snp | C/T | 0.495174 | 0.0488838 | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149725083 | TAAATTACGGTGTTA[C/T]ATTACATAAAGCTTA | 348995 |
rs9479096 | snp | A/C/T | 0.0138799 | 0.0821421 | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149725108 | AGCTTAGTTTCTTAT[A/C/T]AAAATTGGCAAAACT | 348995 |
rs9479409 | snp | C/T | 0.0150606 | 0.0854603 | intron-variant | NUP43 | GRCh38.p7 | 6:149736694 | GTAACACAGGAAACA[C/T]Gttttttgtttgttt | 348995 |
rs9479415 | snp | A/G | | | intron-variant | NUP43 | GRCh38.p7 | 6:149737051 | atcccagcactttgg[A/G]aggccaaggcaggtg | 348995 |
rs9479494 | snp | A/G | 0.496778 | 0.0400063 | intron-variant | NUP43 | GRCh38.p7 | 6:149739108 | GCCTCAGCCTCCCAA[A/G]TAGCTGGGATTAGAA | 348995 |
rs9479583 | snp | A/C | 0.0138799 | 0.0821421 | intron-variant | NUP43 | GRCh38.p7 | 6:149742017 | gcatgcgccaccacg[A/C]ctggctaacttttct | 348995 |
rs9479588 | snp | C/T | 0.0138799 | 0.0821421 | intron-variant | NUP43 | GRCh38.p7 | 6:149742089 | tggagtgcaatggtg[C/T]gatctctgctcactg | 348995 |
rs9688350 | snp | A/T | 0.499809 | 0.00978247 | intron-variant | NUP43 | GRCh38.p7 | 6:149730977 | GTATGATAAAATTAC[A/T]CATAACAggctgggc | 348995 |
rs9688517 | snp | C/T | 0.49645 | 0.0419827 | intron-variant | NUP43 | GRCh38.p7 | 6:149740655 | AACAAAACACACACA[C/T]ACAAAATGGATTCAT | 348995 |
rs9688699 | snp | A/G | 0.496583 | 0.0411924 | intron-variant | NUP43 | GRCh38.p7 | 6:149733680 | CAAACAACTGGGCTC[A/G]AGAGATCTGTTTGCC | 348995 |
rs9688880 | snp | A/G | 0.0232847 | 0.105357 | intron-variant | NUP43 | GRCh38.p7 | 6:149740822 | GATTTTGCATTACAG[A/G]CTCTTTGCAATCTGG | 348995 |
rs9689237 | snp | C/T | 0.0517044 | 0.152246 | intron-variant, utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149727663 | ATATATTTCTAAATA[C/T]ATATTTGTTACTATA | 348995 |
rs9689340 | snp | A/G | 0.49706 | 0.0382258 | intron-variant | NUP43 | GRCh38.p7 | 6:149737177 | tagttccagctactt[A/G]ggaggctgaggcatg | 348995 |
rs9689702 | snp | A/G | 0.49999 | 0.00219646 | intron-variant | NUP43 | GRCh38.p7 | 6:149740720 | CTAGAGTGGTCGACA[A/G]TTAAAAAATTTCCTC | 348995 |
rs9767281 | snp | A/G | 0.0232847 | 0.105357 | intron-variant | NUP43 | GRCh38.p7 | 6:149734010 | tgtatttttagtagc[A/G]acgggctttctccat | 348995 |
rs9767608 | snp | A/C | 0.0263992 | 0.111815 | upstream-variant-2KB | NUP43 | GRCh38.p7 | 6:149746832 | ACAATGCAGTAGAAA[A/C]CACCTTGAAACCACA | 348995 |
rs9767652 | snp | A/T | 0.499693 | 0.0123764 | intron-variant | NUP43 | GRCh38.p7 | 6:149734502 | agagaccccattttt[A/T]aaaaaaTATATAGgg | 348995 |
rs9800806 | snp | G/T | 0.496778 | 0.0400063 | intron-variant | NUP43 | GRCh38.p7 | 6:149740350 | TAAACAACACAAAAG[G/T]CCAGGTACAGTGGCT | 348995 |
rs10782314 | snp | C/T | 0.499784 | 0.0103811 | intron-variant | NUP43 | GRCh38.p7 | 6:149735527 | gtaagtccaggagtt[C/T]aaggctgcaatgagc | 348995 |
rs10782315 | snp | C/T | 0.49999 | 0.00219646 | intron-variant | NUP43 | GRCh38.p7 | 6:149743093 | AGGTGTGAGAATTGC[C/T]TGAACCAGAGAGATG | 348995 |
rs10872644 | snp | C/T | 0.496999 | 0.0386216 | intron-variant | NUP43 | GRCh38.p7 | 6:149741819 | AGTATTTACTTAGTA[C/T]ATGGTAAGTGCTCAA | 348995 |
rs10872645 | snp | A/G | 0.443464 | 0.15834 | intron-variant | NUP43 | GRCh38.p7 | 6:149742840 | AGTTGGATGTTCAAA[A/G]GCAACTCTTTGTATT | 348995 |
rs10872646 | snp | A/G | 0.49397 | 0.0545784 | utr-variant-5-prime, nc-transcript-variant, upstream-variant-2KB | NUP43 | GRCh38.p7 | 6:149746539 | AAAAGCAAGCACAGT[A/G]CGCGCCTCTCAGCAC | 348995 |
rs11155675 | snp | C/T | 0.441158 | 0.161117 | intron-variant | NUP43 | GRCh38.p7 | 6:149742883 | AACCTACATCTAAAA[C/T]ATACATATCTGGCCC | 348995 |
rs11305807 | in-del | -/A | | | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149726417 | AAAAAAAAAAAAAAA[-/A]TTGAACACAGCTACA | 348995 |
rs11430528 | in-del | -/A | 0.490063 | 0.0697833 | intron-variant | NUP43 | GRCh38.p7 | 6:149732183 | AAAAAAAAAAAAAAA[-/A]GAAAAGAAAGGAAAA | 348995 |
rs11961809 | snp | C/T | 0.0391387 | 0.134304 | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724838 | aggtgcttcacccac[C/T]tcggcctcccaaagt | 348995 |
rs12111376 | snp | A/G | 0.496778 | 0.0400063 | intron-variant | NUP43 | GRCh38.p7 | 6:149740561 | GTGAACCCAGGAGGT[A/G]GAGGTTGCAGTGAGC | 348995 |
rs12178310 | snp | A/G | 0.496714 | 0.0404017 | intron-variant | NUP43 | GRCh38.p7 | 6:149737690 | CAATGGCACGATCTT[A/G]GCTCACTGCAAACTC | 348995 |
rs12181927 | snp | C/T | | | intron-variant | NUP43 | GRCh38.p7 | 6:149734031 | ctttctccatgttgg[C/T]caggctggtctcgaa | 348995 |
rs12202705 | snp | C/T | | | intron-variant | NUP43 | GRCh38.p7 | 6:149735595 | agagagagaccctgt[C/T]tccaaaaaaaaaaaa | 348995 |
rs12207985 | snp | G/T | 0 | 0 | intron-variant | NUP43 | GRCh38.p7 | 6:149734663 | attagctaggcatgg[G/T]ggcaaatgcctttag | 348995 |
rs12211511 | snp | C/G | 0.443195 | 0.158668 | intron-variant | NUP43 | GRCh38.p7 | 6:149745206 | gaaatagagaccatc[C/G]tggctaatatggtga | 348995 |
rs12212415 | snp | C/T | 0.232943 | 0.249417 | intron-variant | NUP43 | GRCh38.p7 | 6:149740823 | ATTTTGCATTACAGA[C/T]TCTTTGCAATCTGGC | 348995 |
rs12526675 | snp | A/C | 0.496999 | 0.0386216 | intron-variant | NUP43 | GRCh38.p7 | 6:149729540 | CAGAACAAACTTTTA[A/C]AGCATTTTCAACAGT | 348995 |
rs12660304 | snp | C/T | 0.49999 | 0.00219646 | intron-variant | NUP43 | GRCh38.p7 | 6:149739647 | TTTAACTCTTAAGAT[C/T]GTTACCCTGCATTTC | 348995 |
rs13214938 | snp | A/G | 0.0174175 | 0.0916809 | upstream-variant-2KB | NUP43 | GRCh38.p7 | 6:149746853 | TGAAACCACACCTAA[A/G]CAGTTGCAGGTCACT | 348995 |
rs17088269 | snp | C/T | 0.151668 | 0.229849 | intron-variant, utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149728125 | CACTTGTATGTACCA[C/T]TAATTTACTACTTTA | 348995 |
rs28455968 | snp | A/C | 0 | 0 | intron-variant | NUP43 | GRCh38.p7 | 6:149733202 | AAGAGGCAATATCCA[A/C]TATTGGTTAATGCCA | 348995 |
rs28637540 | snp | A/G | | | intron-variant | NUP43 | GRCh38.p7 | 6:149735830 | AACAAAAAATCAGCT[A/G]GGCATGGTGACACAC | 348995 |
rs28692896 | snp | C/G/T | 0.0138799 | 0.0821421 | intron-variant | NUP43 | GRCh38.p7 | 6:149745047 | CTGGGATTACAAGCG[C/G/T]GCACCAGGGCTAGGT | 348995 |
rs34147067 | snp | A/C/T | 0.000399281 | 0.0141238 | intron-variant | NUP43 | GRCh38.p7 | 6:149736786 | CTCAAACTCCCTGGG[A/C/T]TCAGGTATCCTCCCA | 348995 |
rs34169947 | in-del | -/A | | | intron-variant | NUP43 | GRCh38.p7 | 6:149739765 | GTGCTTCCTACAGAG[-/A]CTCATTCTAACCTTG | 348995 |
rs34361531 | in-del | -/A | | | intron-variant, downstream-variant-500B | NUP43 | GRCh38.p7 | 6:149729916 | CTCAAAAACAGGAAA[-/A]CTTGGAAAATGCAAA | 348995 |
rs34447002 | in-del | -/A | 0 | 0 | intron-variant | NUP43 | GRCh38.p7 | 6:149743598 | GCAAAACTCCATTTC[-/A]AAAAAAAAAAAAATC | 348995 |
rs34451561 | in-del | -/C | | | intron-variant | NUP43 | GRCh38.p7 | 6:149742151 | CTGCCTCAGCCTCCC[-/C]AAGTAGCTGGGATTA | 348995 |
rs34547225 | in-del | -/C | | | intron-variant | NUP43 | GRCh38.p7 | 6:149734682 | AATGCCTTTAGTCCC[-/C]AGCTACTAGGGAGGC | 348995 |
rs34562751 | in-del | -/C | | | intron-variant | NUP43 | GRCh38.p7 | 6:149736916 | TGGTCTCAAACTCCC[-/C]AGGCTCCAGTGATCT | 348995 |
rs34793140 | in-del | -/C | | | intron-variant | NUP43 | GRCh38.p7 | 6:149745324 | GAATCGCTTGAACCC[-/C]GGGAAGCGGAGGTTG | 348995 |
rs35217409 | in-del | -/G | 0.494013 | 0.0543839 | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724358 | ATTTAGTGAAACCCT[-/G]ACATTAAAGCGTCCC | 348995 |
rs35374326 | in-del | -/T/TAAC | | | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724446 | CATCAGTGTGTTAAC[-/T/TAAC]ATACAATAGGACTGT | 348995 |
rs35960957 | in-del | -/A | | | intron-variant | NUP43 | GRCh38.p7 | 6:149734913 | AAAAGAAAAAAAAAA[-/A]GCTTATAAATCTATT | 348995 |
rs36041750 | snp | C/T | 0.0337553 | 0.125452 | intron-variant, synonymous-codon, utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149728459 | CATGCTCCACACATG[C/T]TCTCCGCTCCAGAAT | 348995 |
rs36055055 | in-del | -/ACA | | | utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149724447 | ATCAGTGTGTTAACA[-/ACA]TACAATAGGACTGTA | 348995 |
rs36076994 | in-del | -/A | | | intron-variant, utr-variant-3-prime, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149728320 | TTCCTTAAAAGTAAA[-/A]CTTGCAAGTTCAAGA | 348995 |
rs41288437 | snp | A/C | 0.000399281 | 0.0141238 | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149725837 | AAAGATGGTTGGTAA[A/C]ACTATAGGTGGCTAA | 348995 |
rs55858240 | snp | C/G | 0.0535932 | 0.154675 | utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B | NUP43 | GRCh38.p7 | 6:149726763 | CCACATGTTCACAAT[C/G]TTTTGCCATCAGTCA | 348995 |
rs56397000 | snp | C/T | 0.49999 | 0.00219646 | intron-variant | NUP43 | GRCh38.p7 | 6:149739347 | GCTAGAGGGCAGTGG[C/T]GTACTCTGGGCTCAC | 348995 |
rs57287036 | snp | A/C | | | intron-variant | NUP43 | GRCh38.p7 | 6:149739775 | ACAGAGCTCATTCTA[A/C]CCTTGTATTATTCTG | 348995 |
rs57442931 | snp | C/T | | | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149726080 | GCTCAAAAACCTATT[C/T]TGAAAAAGGAACTTG | 348995 |
rs57666381 | snp | A/G | 0.0418186 | 0.138422 | upstream-variant-2KB | PCMT1, NUP43 | GRCh38.p7 | 6:149748248 | AACCGGGACCTGGGA[A/G]GTGGAGGTTGCAATG | 348995 |
rs57726234 | in-del | -/AA | | | intron-variant | NUP43 | GRCh38.p7 | 6:149735620 | AAAAAAAAAAAAAAA[-/AA]CACACACAGAGATAA | 348995 |
rs58006226 | snp | C/T | | | intron-variant | NUP43 | GRCh38.p7 | 6:149744750 | CTGAGGCAGGAGAAT[C/T]GCTTGAACCCAGGAG | 348995 |
rs58048803 | in-del | -/TATTT | | | intron-variant | NUP43 | GRCh38.p7 | 6:149744915 | ATTTATTTATTTATT[-/TATTT]ATTATTATTTTTTGA | 348995 |
rs58186084 | snp | C/T | 0.0256215 | 0.110247 | intron-variant | NUP43 | GRCh38.p7 | 6:149733246 | TTCTGGTCTTTATCA[C/T]AGAAATAGCAACTGA | 348995 |
rs58509133 | in-del | -/T | 0.0023933 | 0.0345097 | intron-variant | NUP43 | GRCh38.p7 | 6:149743832 | AAAAAGCAAAGAGCC[-/T]ATGAGTGCTAAGGAA | 348995 |
rs58941321 | snp | C/T | 0.0528381 | 0.153711 | utr-variant-3-prime, intron-variant, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149725598 | CCATCTCAAAAAATA[C/T]ATATATTTATTAGGA | 348995 |
rs59023035 | snp | C/T | 0 | 0 | intron-variant | NUP43 | GRCh38.p7 | 6:149740305 | AAAAAAAAAAAGTAA[C/T]GCAACTTAACTCAGA | 348995 |
rs59790102 | snp | A/G | | | intron-variant | NUP43 | GRCh38.p7 | 6:149735671 | CAGTTTTGGATATAA[A/G]AATTAAACCTGTGGT | 348995 |
rs60424881 | snp | C/G | 0.490508 | 0.0682328 | intron-variant | NUP43 | GRCh38.p7 | 6:149745332 | TTGAACCCGGGAAGC[C/G]GAGGTTGTAGTGAGC | 348995 |
rs60918651 | snp | C/T | 0.0700422 | 0.173537 | intron-variant | NUP43 | GRCh38.p7 | 6:149739415 | CCTCGGCCTCTCTAG[C/T]ACCTGGGATTACAGG | 348995 |
rs61049376 | in-del | -/TTT | | | intron-variant | NUP43 | GRCh38.p7 | 6:149744928 | TTATTATTATTTTTT[-/TTT]GAGACAGAGTTTCGC | 348995 |
rs61748673 | snp | A/C/G | 0.0136769 | 0.0815571 | missense, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149745990 | CACACAATAACTGAT[A/C/G]GTCTCCTTCAAACCC | 348995 |
rs61756083 | snp | C/T | 0.00215888 | 0.0327838 | synonymous-codon, nc-transcript-variant | NUP43 | GRCh38.p7 | 6:149731629 | TTGGTGAAAGAGTGA[C/T]GACTTTTCAGGTACA | 348995 |
rs62441280 | snp | A/G | 0.5 | 0 | intron-variant, downstream-variant-500B | NUP43 | GRCh38.p7 | 6:149730004 | ACTGTAATGAGGAAA[A/G]CACGCCCTTTTTTTT | 348995 |
rs62441282 | snp | A/G | 0.168785 | 0.236441 | intron-variant | NUP43 | GRCh38.p7 | 6:149740716 | AGGTCTAGAGTGGTC[A/G]ACAGTTAAAAAATTT | 348995 |