SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs12879 | snp | C/T | 0.00159617 | 0.0282053 | utr-variant-3-prime | UPF1 | GRCh38.p7 | 19:18868014 | CACCGGGTAGGTTTC[C/T]GCGGTGACCCCGCGG | 5976 |
rs15170 | snp | C/T | 0 | 0 | utr-variant-3-prime | UPF1 | GRCh38.p7 | 19:18868013 | GCACCGGGTAGGTTT[C/T]CGCGGTGACCCCGCG | 5976 |
rs757113 | snp | G/T | 0.335559 | 0.234904 | intron-variant | UPF1 | GRCh38.p7 | 19:18854146 | GCCGTACTGGGAGGG[G/T]TGTTGTTTCTGTGGA | 5976 |
rs757114 | snp | A/G | 0.189261 | 0.242509 | intron-variant | UPF1 | GRCh38.p7 | 19:18859548 | GTGCTCGCTGTAACA[A/G]CAGTGATCCACTTGG | 5976 |
rs757115 | snp | C/T | 0.361474 | 0.223771 | intron-variant | UPF1 | GRCh38.p7 | 19:18860513 | GACCCATTCTACTTA[C/T]TTTTAACATGGGACT | 5976 |
rs886298 | snp | C/T | 0.187685 | 0.242109 | intron-variant | UPF1 | GRCh38.p7 | 19:18854245 | TGCAGGAGCTCCCGG[C/T]GAGGTCCTGGGGCCC | 5976 |
rs997157 | snp | A/G | 0 | 0 | intron-variant | UPF1 | GRCh38.p7 | 19:18848004 | AAGGGTAAATACATT[A/G]AGGCATTCACACACC | 5976 |
rs998284 | snp | A/C | 0 | 0 | intron-variant | UPF1 | GRCh38.p7 | 19:18847887 | TTTCCATAATTTACA[A/C]ACAAATCTGAGCACA | 5976 |
rs1024445 | snp | A/G | 0.347253 | 0.230308 | intron-variant | UPF1 | GRCh38.p7 | 19:18848287 | GTTCACTTGACCGTC[A/G]GCGCTGGGCTTGCCT | 5976 |
rs1024446 | snp | A/G | 0.499087 | 0.0213463 | intron-variant | UPF1 | GRCh38.p7 | 19:18848400 | CCAAGGGGGGAGTTC[A/G]ATGGTCTTGCCCGAG | 5976 |
rs1024447 | snp | A/G | 0 | 0 | intron-variant | UPF1 | GRCh38.p7 | 19:18848743 | TGGTGTTATGAGCAA[A/G]GCCAGAAAGGGGCTG | 5976 |
rs1044693 | snp | A/C | 0 | 0 | utr-variant-3-prime, downstream-variant-500B | UPF1, GDF1, CERS1 | GRCh38.p7 | 19:18868201 | TTAAGTTCTTTTGTC[A/C]CCAAATATTAATAAA | 5976 |
rs1044704 | snp | A/T | 0 | 0 | missense | UPF1 | GRCh38.p7 | 19:18863506 | GGAACCACCTGCTGA[A/T]CTACTATAAGGAGCA | 5976 |
rs1062846 | snp | C/T | 0.00491398 | 0.0493238 | missense | UPF1 | GRCh38.p7 | 19:18860356 | TTTGACTTCCAGTGG[C/T]CCCAACCCGATAAAC | 5976 |
rs1128014 | snp | A/G | 0 | 0 | missense | UPF1 | GRCh38.p7 | 19:18855236 | ACCTGGCCCGGCAAG[A/G]CAACGGGCCGGTGCT | 5976 |
rs1270299 | snp | A/C | 0 | 0 | intron-variant | UPF1 | GRCh38.p7 | 19:18842526 | AGCTTTGGAATTTTT[A/C]AAAATAAGAGGAAAT | 5976 |
rs2005695 | snp | A/T | 0.211819 | 0.247067 | intron-variant | UPF1 | GRCh38.p7 | 19:18862629 | TCACCTGAGGTCAGG[A/T]GTTCTCGACCAGCCT | 5976 |
rs2238652 | snp | C/T | 0.0490535 | 0.14873 | upstream-variant-2KB | UPF1 | GRCh38.p7 | 19:18831750 | ACCACCAAGTCCACA[C/T]CGCCAGCCGCCCGGG | 5976 |
rs2238653 | snp | A/G | 0.384593 | 0.210677 | intron-variant | UPF1 | GRCh38.p7 | 19:18839836 | GTTAGAAGACAGCAC[A/G]TGCCGCCTGGCCAGG | 5976 |
rs2238654 | snp | A/G | 0.365646 | 0.221644 | intron-variant | UPF1 | GRCh38.p7 | 19:18851252 | ATAGGTTGGTGTCGA[A/G]GTCGGCACAGTCAGC | 5976 |
rs2238655 | snp | C/T | 0.41275 | 0.189769 | intron-variant | UPF1 | GRCh38.p7 | 19:18853633 | GAAGTTAATGTATGC[C/T]GCTTGTGTGGCACGT | 5976 |
rs2238656 | snp | A/G | 0.358728 | 0.225118 | intron-variant | UPF1 | GRCh38.p7 | 19:18853701 | GCGCCTTACCTGGAC[A/G]CTGACTCTGCACACG | 5976 |
rs2238657 | snp | C/G | 0.35894 | 0.225016 | intron-variant | UPF1 | GRCh38.p7 | 19:18863250 | ACAAAATCAACCCGT[C/G]TGCAGGGTCAGTGGC | 5976 |
rs2238658 | snp | A/G | 0.492675 | 0.0600729 | intron-variant | UPF1 | GRCh38.p7 | 19:18863391 | GGACCGTCCTGTGAG[A/G]CGGGCAGCTCTCCAC | 5976 |
rs2239371 | snp | A/G | 0.403334 | 0.197456 | intron-variant | UPF1 | GRCh38.p7 | 19:18833216 | GCGGAAGGTTGAGGC[A/G]GAGAAGAATTTTTGC | 5976 |
rs3787045 | snp | A/G | 0.0741063 | 0.177655 | intron-variant | UPF1 | GRCh38.p7 | 19:18848639 | GTCAAAGGCACAGGA[A/G]GGGCTTGTGTCAGCA | 5976 |
rs3787046 | snp | A/C | | | intron-variant | UPF1 | GRCh38.p7 | 19:18844292 | CCCCCCCCGGCCCCC[A/C]AAAAAAGCAGCTCCT | 5976 |
rs3787047 | snp | A/G | 0.333491 | 0.235646 | intron-variant | UPF1 | GRCh38.p7 | 19:18842861 | TAGCTGGGATTACAG[A/G]CATGCGCCACCACGC | 5976 |
rs3787048 | snp | A/T | 0.36606 | 0.221428 | intron-variant | UPF1 | GRCh38.p7 | 19:18842858 | CTGGGATTACAGGCA[A/T]GCGCCACCACGCCTA | 5976 |
rs3833293 | in-del | -/A | 8.33618e-05 | 0.00645554 | intron-variant | UPF1 | GRCh38.p7 | 19:18854736 | TGGCAACCAGGGAAC[-/A]GGGGGCAGTGATGGG | 5976 |
rs4808161 | snp | C/G | 0.183568 | 0.241012 | utr-variant-5-prime | UPF1 | GRCh38.p7 | 19:18832079 | GCTGGCGCCGGGGCG[C/G]GCGGTTTGGTCCTTT | 5976 |
rs4808860 | snp | A/C | 0.00693633 | 0.0584812 | intron-variant | UPF1 | GRCh38.p7 | 19:18844156 | TGGTTTTAGTCGTAG[A/C]TAGGTTCACATCCAG | 5976 |
rs4808861 | snp | A/G | 0.37778 | 0.214877 | intron-variant | UPF1 | GRCh38.p7 | 19:18859923 | GCAGGGCAGGGGGAC[A/G]CTGTTGGCTCAACAG | 5976 |
rs5827424 | in-del | -/T | | | intron-variant | UPF1 | GRCh38.p7 | 19:18844491 | ATTTTTTTTTTTTTT[-/T]GCCTTTTTAGTAAAA | 5976 |
rs7245456 | snp | C/T | 0.00755907 | 0.0610114 | intron-variant | UPF1 | GRCh38.p7 | 19:18856820 | GTCCCACCTGCCCTC[C/T]GGGGTCTGGTGGCGT | 5976 |
rs7250661 | snp | C/T | 0.212728 | 0.247206 | intron-variant | UPF1 | GRCh38.p7 | 19:18857849 | GGCCTTAACGTGGGC[C/T]GTGCATTCAGTGCTT | 5976 |
rs7251329 | snp | A/C | 0.171704 | 0.237423 | intron-variant | UPF1 | GRCh38.p7 | 19:18861549 | GTGGCTAAAAGAGAA[A/C]AGGCTAGGTGTCATG | 5976 |
rs7252523 | snp | C/T | 0.188316 | 0.242271 | intron-variant | UPF1 | GRCh38.p7 | 19:18861782 | GCAGCGAGCTGAGAT[C/T]GTACCACTGTACTCT | 5976 |
rs7255787 | snp | A/G | 0.00755907 | 0.0610114 | intron-variant | UPF1 | GRCh38.p7 | 19:18862428 | TTGTTTAATCTGAGA[A/G]GCTGTAAGTTTTGGT | 5976 |
rs7257086 | snp | C/T | 0.183568 | 0.241012 | intron-variant | UPF1 | GRCh38.p7 | 19:18862888 | TCACCAGCTGGAAGT[C/T]GGGGGGACCTGGCCT | 5976 |
rs8103462 | snp | C/T | 0.000733476 | 0.0191363 | synonymous-codon | UPF1 | GRCh38.p7 | 19:18857526 | CCTCCAGAATGGTGT[C/T]ACTGCAGGTAACGGG | 5976 |
rs8105827 | snp | C/G | 0.0162398 | 0.0886349 | upstream-variant-2KB | UPF1 | GRCh38.p7 | 19:18831839 | TTGAAAGCCCCACCC[C/G]CTGCGCGTGCGCGGT | 5976 |
rs9917075 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | UPF1 | GRCh38.p7 | 19:18832797 | GGGTTTGCTCCCCCT[C/T]CTGGGCCCGGGCTGA | 5976 |
rs10405364 | snp | A/G | 0.181659 | 0.240478 | intron-variant | UPF1 | GRCh38.p7 | 19:18861199 | GACTTTGAGAAATAC[A/G]TCACAGGGATCAGAA | 5976 |
rs10410987 | snp | C/G | 0.212425 | 0.24716 | utr-variant-3-prime | UPF1 | GRCh38.p7 | 19:18867128 | TTCCTAAGTTTGTCT[C/G]TAAAATCTTAGCGGT | 5976 |
rs10411147 | snp | A/G | | | intron-variant | UPF1 | GRCh38.p7 | 19:18837388 | ccattgagcctggcA[A/G]AAGTGCTGCCTGGAA | 5976 |
rs10412694 | snp | G/T | 0.0995161 | 0.199636 | intron-variant | UPF1 | GRCh38.p7 | 19:18861925 | CGGGTGGGATTTGAG[G/T]GTGGGTCTTGGTGTG | 5976 |
rs10414336 | snp | A/C/G | 0.00199481 | 0.0315187 | intron-variant | UPF1 | GRCh38.p7 | 19:18849487 | AGCAAGGAAGGAGCC[A/C/G]AGCCAGCCAGGGCTT | 5976 |
rs10416469 | snp | C/T | 0.0818113 | 0.184966 | utr-variant-3-prime | UPF1 | GRCh38.p7 | 19:18867441 | TGGCCAGGACTGGCC[C/T]TGTGGCCAGGAGGCG | 5976 |
rs10416612 | snp | A/G | 0.0984652 | 0.19884 | intron-variant | UPF1 | GRCh38.p7 | 19:18866179 | AAGGCAAGCCCCCCT[A/G]GAGCAGGCCTGGCCC | 5976 |
rs10417863 | snp | A/G | | | intron-variant | UPF1 | GRCh38.p7 | 19:18837825 | GTCATCTCGTACTGG[A/G]ATTTTACTCTGAGTG | 5976 |
rs10419754 | snp | C/G | 0.0228947 | 0.104514 | intron-variant | UPF1 | GRCh38.p7 | 19:18847122 | CAGGCACTCTTTCCT[C/G]CATCTCAGCTCTTCA | 5976 |
rs10420445 | snp | A/T | 0.164873 | 0.23506 | intron-variant | UPF1 | GRCh38.p7 | 19:18841717 | CAGGCTGTGGGCTCC[A/T]GGGAGAGTGGCTGAT | 5976 |
rs10682791 | in-del | -/TT | 0 | 0 | intron-variant | UPF1 | GRCh38.p7 | 19:18864755 | TTTTTTTTTTTTTTT[-/TT]GGAGACCGAGTCTCG | 5976 |
rs11666657 | snp | C/T | 0 | 0 | intron-variant | UPF1 | GRCh38.p7 | 19:18864668 | cctcaagcagtcctt[C/T]tgctcagcctcccaa | 5976 |
rs11666949 | snp | C/T | 0.344815 | 0.231323 | intron-variant | UPF1 | GRCh38.p7 | 19:18835313 | AACCTGAtcgaggtt[C/T]atccacgctgtggta | 5976 |
rs11667922 | snp | C/T | 0.0744748 | 0.178019 | intron-variant | UPF1 | GRCh38.p7 | 19:18858780 | ACTCTTCTTACTTAG[C/T]TTATTTTTGGAGAAA | 5976 |
rs11669119 | snp | C/T | 0.0752113 | 0.178743 | intron-variant | UPF1 | GRCh38.p7 | 19:18859971 | TTGTAGGGGCTGTGG[C/T]GCCTTTAAGGCAAGC | 5976 |
rs11670952 | snp | C/T | 0.1652 | 0.235179 | intron-variant | UPF1 | GRCh38.p7 | 19:18836587 | CTTGGGGGTAATGGA[C/T]GTTTTTATTATCGTG | 5976 |
rs11673194 | snp | A/C | 0.212425 | 0.24716 | downstream-variant-500B | UPF1, GDF1, CERS1 | GRCh38.p7 | 19:18868515 | GGCGCCCTCCCCACC[A/C]CCCAGGCAAGGAGTC | 5976 |
rs12052113 | snp | C/T | | | upstream-variant-2KB | UPF1 | GRCh38.p7 | 19:18830124 | TTTCGGGGGGGGCTC[C/T]TAGCATGCACTAAAC | 5976 |
rs12460303 | snp | C/G/T | 0.00938946 | 0.0678717 | intron-variant | UPF1 | GRCh38.p7 | 19:18859195 | GGGAAAGGCGTGGCT[C/G/T]GGCGCAGGCTCAGAC | 5976 |
rs12460984 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | UPF1 | GRCh38.p7 | 19:18854515 | AACTAAATTTTAAAA[A/G]CGCTGTTTAAAGAGC | 5976 |
rs12461810 | snp | C/T | 0 | 0 | intron-variant | UPF1 | GRCh38.p7 | 19:18843565 | gctctgtgactcagg[C/T]tggagtgcagtggtg | 5976 |
rs12976276 | snp | A/T | | | synonymous-codon | UPF1 | GRCh38.p7 | 19:18832389 | cggtggcggcgcggg[A/T]ggcccgggcggcgcg | 5976 |
rs12976930 | snp | A/G | | | missense | UPF1 | GRCh38.p7 | 19:18832390 | ggtggcggcgcggga[A/G]gcccgggcggcgcgg | 5976 |
rs16995752 | snp | C/T | 0.0360663 | 0.129354 | intron-variant | UPF1 | GRCh38.p7 | 19:18849469 | GTGTCCTGGCCACGT[C/T]GCAGCAAGGAAGGAG | 5976 |
rs16995755 | snp | C/T | 0.00755907 | 0.0610114 | intron-variant | UPF1 | GRCh38.p7 | 19:18852609 | ACCACATTTAGGCAA[C/T]GGGAGCCCTGGAGCG | 5976 |
rs17339451 | snp | G/T | 0 | 0 | missense | UPF1 | GRCh38.p7 | 19:18832414 | GGCGCGGGCGCGGGC[G/T]CTGCGGCGGGACAGC | 5976 |
rs28558930 | snp | A/C | | | intron-variant | UPF1 | GRCh38.p7 | 19:18857308 | GACTTGTGGGGGCCC[A/C]TGTTCCTACAGCTGA | 5976 |
rs28593000 | snp | A/T | | | utr-variant-3-prime | UPF1 | GRCh38.p7 | 19:18866587 | TGGGTAATAAAAAAT[A/T]AAAATAAACGGATAC | 5976 |
rs28611254 | snp | A/G | | | intron-variant | UPF1 | GRCh38.p7 | 19:18842821 | CCAGACCAACATGGA[A/G]AAACCCTGTCTCTAC | 5976 |
rs28650812 | snp | A/G | | | intron-variant | UPF1 | GRCh38.p7 | 19:18864923 | TTTGTGTTTTTAGTA[A/G]AAACGAGGTTTCGCC | 5976 |
rs34034934 | in-del | -/G | | | intron-variant | UPF1 | GRCh38.p7 | 19:18834644 | TTGTTTGTGGGGAAT[-/G]GGGAGTGGTACCCCT | 5976 |
rs34127944 | in-del | -/T | | | upstream-variant-2KB | UPF1 | GRCh38.p7 | 19:18831018 | CTTCCCAGGGTCAAG[-/T]CGATCCTCCCACCTC | 5976 |
rs34266994 | snp | C/T | 1.65935e-05 | 0.00288036 | synonymous-codon | UPF1 | GRCh38.p7 | 19:18856222 | GCAGCAGCTGAAAGA[C/T]GAGACTGGGGAGCTG | 5976 |
rs34322276 | in-del | -/G | | | intron-variant | UPF1 | GRCh38.p7 | 19:18833012 | CCTCAGTCCCTTTCC[-/G]GGGAGTATCCAGGGT | 5976 |
rs34354340 | in-del | -/T | | | intron-variant | UPF1 | GRCh38.p7 | 19:18841370 | AGTATGTAGTATGCA[-/T]TTTCTAGAAGCAGAA | 5976 |
rs34616088 | in-del | -/G | | | intron-variant | UPF1 | GRCh38.p7 | 19:18844311 | GCCGGGGGGGGGTTT[-/G]GGGTTTTTCTTTTTT | 5976 |
rs34677724 | snp | C/T | 0.0696965 | 0.173178 | synonymous-codon | UPF1 | GRCh38.p7 | 19:18856912 | CACATGTGTGGGCGC[C/T]GGTGACCCGAGGCTG | 5976 |
rs35135402 | in-del | -/T | | | upstream-variant-2KB | UPF1 | GRCh38.p7 | 19:18831084 | ACCACGCTTAGCTAA[-/T]TTTTTTTTTTTTTTT | 5976 |
rs35262201 | snp | G/T | 0.0123036 | 0.0774623 | intron-variant | UPF1 | GRCh38.p7 | 19:18842846 | CTCTACTAAAAATAG[G/T]CGTGGTGGCGCATGT | 5976 |
rs35329917 | in-del | -/G | | | intron-variant | UPF1 | GRCh38.p7 | 19:18840207 | GAGACGGAGGACACC[-/G]GGGATCAGGGCTGTG | 5976 |
rs35427308 | snp | C/T | 0.00478209 | 0.0486639 | synonymous-codon | UPF1 | GRCh38.p7 | 19:18845988 | GCTGCAGGTTGGGCC[C/T]GAAGGCATCCTGCAG | 5976 |
rs35496764 | in-del | -/T | | | intron-variant | UPF1 | GRCh38.p7 | 19:18834674 | TTGCATCACAAGGGG[-/T]AAGAACGGAATTTGG | 5976 |
rs35934501 | in-del | -/T/TT/TTT | | | intron-variant | UPF1 | GRCh38.p7 | 19:18843518 | AAGTGACTTTCTTTG[-/T/TT/TTT]TTTTTTTTTTTTTTT | 5976 |
rs36020300 | in-del | -/C | | | downstream-variant-500B | UPF1, GDF1, CERS1 | GRCh38.p7 | 19:18868507 | ACTGAGGGGCGCCCT[-/C]CCCCACCCCCCAGGC | 5976 |
rs36064131 | snp | A/G | 0.0425331 | 0.13949 | missense | UPF1 | GRCh38.p7 | 19:18850818 | CAGGAGCAGCTGCGG[A/G]CACGCCAGATCACGG | 5976 |
rs36102079 | in-del | -/C | | | intron-variant | UPF1 | GRCh38.p7 | 19:18842612 | GAGAGGGCTCAGAGA[-/C]CCCTGCAGCTTCTTG | 5976 |
rs45467996 | snp | A/G | 0.040671 | 0.13668 | intron-variant | UPF1 | GRCh38.p7 | 19:18855350 | CACCGAAGAGAGCAC[A/G]TGGCGGGTAGTGTCG | 5976 |
rs45505499 | snp | C/T | 0.0177636 | 0.092554 | synonymous-codon | UPF1 | GRCh38.p7 | 19:18860385 | ACCGATGTTCTTCTA[C/T]GTGACCCAGGGCCAA | 5976 |
rs45559441 | snp | C/G | | | intron-variant | UPF1 | GRCh38.p7 | 19:18861059 | CTTTAAGTTACCCCC[C/G]AAGAGGGGCCCGTCC | 5976 |
rs55824320 | snp | A/G | 0.0995161 | 0.199636 | upstream-variant-2KB | UPF1 | GRCh38.p7 | 19:18831773 | CGCCCGGGCGTCCCC[A/G]ATTAGCAGTTGGGGC | 5976 |
rs56273720 | in-del | -/G | | | intron-variant | UPF1 | GRCh38.p7 | 19:18843749 | TGTGTGTGTGTGTGT[-/G]TGTTGTTGTTAAGAG | 5976 |
rs56352507 | snp | C/T | | | intron-variant | UPF1 | GRCh38.p7 | 19:18842817 | CCAGCCAGACCAACA[C/T]GGAGAAACCCTGTCT | 5976 |
rs57030846 | snp | C/G | 0.0741063 | 0.177655 | intron-variant | UPF1 | GRCh38.p7 | 19:18837644 | CTGTGGGTAGGTACA[C/G]ACCTTTTAGGCAGCA | 5976 |
rs57490498 | snp | G/T | | | intron-variant | UPF1 | GRCh38.p7 | 19:18861484 | TTTGAGCACGGCTCA[G/T]GTTCTCTGGGATGAG | 5976 |
rs57677886 | snp | G/T | 0.0984431 | 0.198823 | utr-variant-3-prime | UPF1 | GRCh38.p7 | 19:18867310 | GTAGCCGCCCGCCGA[G/T]CCTGGAAGCTGCTCG | 5976 |
rs57870078 | snp | C/G | 0.208779 | 0.246578 | intron-variant | UPF1 | GRCh38.p7 | 19:18839251 | TGCGCACCACCATGC[C/G]CAACTAATTTTTTTG | 5976 |
rs58103173 | snp | A/G | 0.0260105 | 0.111035 | intron-variant | UPF1 | GRCh38.p7 | 19:18844788 | TCTGTGCCAGGCACT[A/G]TCCCCTACTGCTGTT | 5976 |