SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs5945908 | snp | A/G | 0.491815 | 0.0634477 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936399 | GGCCATTTGCATTTC[A/G]TCATCCATGAACCAT | 282808 |
rs5945909 | snp | A/C/T | 0.007317 | 0.0600424 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937333 | GATGAGCGCCCCGGG[A/C/T]AGCCCCGACCAGGCC | 282808 |
rs5987498 | snp | G/T | 0.352982 | 0.227804 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936155 | TGCATTTATAACTGA[G/T]AAGTGTGTTTCCATT | 282808 |
rs7065679 | snp | C/T | 0.386447 | 0.209481 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102935779 | GGACCCTGAGAGCAC[C/T]TCCCTTTTAGAAGAT | 282808 |
rs7066794 | snp | C/T | 0.126083 | 0.217128 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937765 | CGCCGAGCGCCTGGG[C/T]GTGACCTTCTTTGAG | 282808 |
rs7876193 | snp | A/G | 0.0116913 | 0.0755576 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937957 | GGTGGACAAGCTCCC[A/G]CTCCCCATTGCCTTA | 282808 |
rs34191945 | snp | C/T | 0.171995 | 0.237519 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937373 | CTGCTCAAGTTCCTG[C/T]TGGTGGGCGACAGGG | 282808 |
rs34530638 | in-del | -/T | | | downstream-variant-500B | RAB40AL | GRCh38.p7 | X:102938593 | TGTAAACCTCCTTTT[-/T]GATGTCAAAGCACCA | 282808 |
rs34674341 | in-del | -/G | | | utr-variant-5-prime | RAB40AL | GRCh38.p7 | X:102937298 | GCTGGTCTGGCCCAG[-/G]CGGGGGGCGGGGCCA | 282808 |
rs34718947 | in-del | -/C | | | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936613 | TGGGAGATGTCCCCC[-/C]TGCAGCAAAAAATGT | 282808 |
rs35837736 | in-del | -/C | | | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936405 | TGCATTTCATCATCC[-/C]ATGAACCATTTATAT | 282808 |
rs36079555 | in-del | -/C | | | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102937073 | AATGTATAGGTTTCC[-/C]ATGATGAATTAACTG | 282808 |
rs56008937 | snp | A/G | | | missense | RAB40AL | GRCh38.p7 | X:102938124 | AGAGCCCACCCAAAA[A/G]CTGCACCAGAAACAG | 282808 |
rs56292265 | snp | A/C | 0.386699 | 0.209316 | downstream-variant-500B | RAB40AL | GRCh38.p7 | X:102938572 | ATATTACTAGAGGGG[A/C]CTTTTTGTAAACCTC | 282808 |
rs56980929 | snp | A/G | 0.0414859 | 0.13792 | downstream-variant-500B | RAB40AL | GRCh38.p7 | X:102938429 | TTTTGAATGTTACTT[A/G]TATCATAATCACACT | 282808 |
rs61729484 | snp | A/G | 0.00263999 | 0.0362357 | missense | RAB40AL | GRCh38.p7 | X:102938093 | CTCTGCAAAGTGAAG[A/G]TCGTCTGCCCACCCC | 282808 |
rs61745022 | snp | C/G/T | 0.121162 | 0.21425 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937753 | GGCCCAGGCCTACGC[C/G/T]GAGCGCCTGGGCGTG | 282808 |
rs61745023 | snp | A/G | 0.0117386 | 0.0757066 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937444 | CACGGCCGAGTCCCC[A/G]TACAGTCACCTGGGG | 282808 |
rs61745025 | snp | C/T | 0.186913 | 0.241909 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937402 | GGACGTAGGCAAGAG[C/T]GAGATCCTGGAGAGC | 282808 |
rs61745026 | snp | A/G | 0.186804 | 0.241881 | missense | RAB40AL | GRCh38.p7 | X:102937400 | AGGGACGTAGGCAAG[A/G]GTGAGATCCTGGAGA | 282808 |
rs61745027 | snp | A/G | 0.184841 | 0.241359 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937393 | GGGCGACAGGGACGT[A/G]GGCAAGAGTGAGATC | 282808 |
rs61745030 | snp | C/G | 0.185918 | 0.241647 | missense | RAB40AL | GRCh38.p7 | X:102937387 | GCTGGTGGGCGACAG[C/G]GACGTAGGCAAGAGT | 282808 |
rs73256119 | snp | C/T | 0.0369084 | 0.130736 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936634 | CAAAAAATGTGTTAG[C/T]GCCCATGCAAACATG | 282808 |
rs112003695 | snp | A/C/T | 0 | 0 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936299 | TGAAATTTTGTCAAA[A/C/T]GATAGGTGATAAAAG | 282808 |
rs138133927 | snp | A/C | 0.00954469 | 0.0684196 | missense | RAB40AL | GRCh38.p7 | X:102937495 | CACCATCCTGCTGGA[A/C]GGCCAGCGGGTGAAG | 282808 |
rs138778721 | snp | C/T | 0.0470367 | 0.145965 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937600 | AGTGATCCTGGTCTA[C/T]GACATTGCAAACCGC | 282808 |
rs139506490 | snp | A/G | 0.000189982 | 0.00974448 | missense | RAB40AL | GRCh38.p7 | X:102937916 | CTCTGCTGCCGCACC[A/G]TCGTGTCCTGCACAC | 282808 |
rs141036852 | snp | A/G | 0.000189982 | 0.00974448 | missense | RAB40AL | GRCh38.p7 | X:102937784 | ACCTTCTTTGAGGTC[A/G]GCCCTCTGTGCAATT | 282808 |
rs141138772 | snp | C/G | 2.27879e-05 | 0.00337541 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102938080 | CAAAAGGAGCAGCCT[C/G]TGCAAAGTGAAGATC | 282808 |
rs142725698 | snp | C/T | 2.32612e-05 | 0.00341029 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937552 | GGGAAGATTTTGTAC[C/T]ATATTCCGCTCCTAC | 282808 |
rs144092531 | snp | C/T | 7.63602e-05 | 0.00617853 | missense | RAB40AL | GRCh38.p7 | X:102937697 | ATCCTGGTGGGGAAT[C/T]GCCTACATCTGGCAT | 282808 |
rs144996990 | snp | A/G | 6.88176e-05 | 0.0058655 | missense | RAB40AL | GRCh38.p7 | X:102937837 | GGAGCTGGCCAGGAT[A/G]GTGCTGCTGCGGCAC | 282808 |
rs145465965 | snp | A/C | 0.000113945 | 0.00754714 | missense | RAB40AL | GRCh38.p7 | X:102937980 | TTGCCTTAAGAAGCC[A/C]CCTCAAGTCCTTCTC | 282808 |
rs145606134 | snp | A/G | 0.0095659 | 0.0684941 | RAB40AL | X | allele_origin=G(germline)/A(germline) | X:102937494 | CCACCATCCTGCTGG[A/G]CGGCCAGCGGGTGAA | 282808 |
rs146065311 | snp | A/G | 0.00126061 | 0.0250742 | missense | RAB40AL | GRCh38.p7 | X:102937575 | GCTCCTACTCTCGTG[A/G]TGCACAAGGAGTGAT | 282808 |
rs146508617 | snp | A/G | 0.000387336 | 0.0139111 | missense | RAB40AL | GRCh38.p7 | X:102938018 | AAGGGCCTGAATGCC[A/G]GGATGATGCGAGGCC | 282808 |
rs147314815 | snp | A/C | 7.21561e-05 | 0.00600607 | missense | RAB40AL | GRCh38.p7 | X:102937736 | CAGGTGCCCAGGGAG[A/C]AGGCCCAGGCCTACG | 282808 |
rs147769041 | snp | A/G | 0.000115207 | 0.00758883 | missense | RAB40AL | GRCh38.p7 | X:102937376 | CTCAAGTTCCTGCTG[A/G]TGGGCGACAGGGACG | 282808 |
rs148255279 | snp | A/G | 0.000136819 | 0.00826988 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937432 | CCTGCAGGACGGCAC[A/G]GCCGAGTCCCCGTAC | 282808 |
rs148863690 | snp | C/G | 0.0004557 | 0.0150878 | missense | RAB40AL | GRCh38.p7 | X:102937978 | CATTGCCTTAAGAAG[C/G]CACCTCAAGTCCTTC | 282808 |
rs149384991 | snp | A/G/T | 2.40128e-05 | 0.00346494 | missense | RAB40AL | GRCh38.p7 | X:102937614 | ACGACATTGCAAACC[A/G/T]CTGGTCTTTCGAGGG | 282808 |
rs149703126 | snp | C/T | 0.000159537 | 0.00892989 | missense | RAB40AL | GRCh38.p7 | X:102937952 | CATCTGGTGGACAAG[C/T]TCCCGCTCCCCATTG | 282808 |
rs150070913 | snp | G/T | 0.000782842 | 0.0197689 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937375 | GCTCAAGTTCCTGCT[G/T]GTGGGCGACAGGGAC | 282808 |
rs150884383 | snp | A/G | 2.31476e-05 | 0.00340195 | missense | RAB40AL | GRCh38.p7 | X:102937365 | ACGACTTCCTGCTCA[A/G]GTTCCTGCTGGTGGG | 282808 |
rs150938412 | snp | A/C | 2.2866e-05 | 0.0033812 | missense | RAB40AL | GRCh38.p7 | X:102937874 | AACTGGCTCGGGAGG[A/C]CGAGCAAGGTACTGA | 282808 |
rs180884135 | snp | A/C | 0.000529661 | 0.016265 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936525 | CATCTTTCTTGGCTG[A/C]ATATTATTTATGAGA | 282808 |
rs181278229 | snp | A/C | 0.000529661 | 0.016265 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936007 | TTGTACATGTGAAAA[A/C]TGTTTCATCCATTAC | 282808 |
rs181884504 | snp | A/G | 0.0118562 | 0.0760758 | utr-variant-5-prime | RAB40AL | GRCh38.p7 | X:102937307 | GCCCAGGCGGGGGGC[A/G]GGGCCAGCACGATGA | 282808 |
rs184858134 | snp | A/C | 0.000529661 | 0.016265 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936257 | TTTGCAAATTAAAAA[A/C]AAATTCTTATTCAGT | 282808 |
rs186080942 | snp | C/T | 0.000529661 | 0.016265 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936867 | GAAAACAATCATAGC[C/T]ACCAAAGACAATTGT | 282808 |
rs186210697 | snp | A/G | 0.000364909 | 0.0135026 | missense | RAB40AL | GRCh38.p7 | X:102937427 | GAGAGCCTGCAGGAC[A/G]GCACGGCCGAGTCCC | 282808 |
rs188019472 | snp | A/G | 0.000529661 | 0.016265 | downstream-variant-500B | RAB40AL | GRCh38.p7 | X:102938756 | TATGTTTTTCTGTAA[A/G]TCTACTTTTTTGTAC | 282808 |
rs188874158 | snp | A/C | 0.00105904 | 0.0229869 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102935970 | AGCAATACTGTAGCA[A/C]ATAACCTCTTACCTG | 282808 |
rs189698250 | snp | A/G | 0.000529661 | 0.016265 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936406 | TGCATTTCATCATCC[A/G]TGAACCATTTATATA | 282808 |
rs191204225 | snp | G/T | 0.00370173 | 0.0428621 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102937150 | GAACCGGTTTCCCAG[G/T]GTTTGTAAAAGAAAA | 282808 |
rs199642440 | snp | C/G | 0.000126648 | 0.00795663 | utr-variant-5-prime | RAB40AL | GRCh38.p7 | X:102937300 | TGGTCTGGCCCAGGC[C/G]GGGGGCGGGGCCAGC | 282808 |
rs199690985 | snp | C/T | 0.000159657 | 0.00893325 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937480 | CGACTACAAGACGAC[C/T]ACCATCCTGCTGGAC | 282808 |
rs199726883 | snp | C/G | 4.55752e-05 | 0.00477342 | missense | RAB40AL | GRCh38.p7 | X:102938037 | TGATGCGAGGCCTCT[C/G]CTACTCCCTCACCAC | 282808 |
rs200643084 | snp | G/T | 0.000182494 | 0.00955059 | missense | RAB40AL | GRCh38.p7 | X:102937911 | AAGACCTCTGCTGCC[G/T]CACCATCGTGTCCTG | 282808 |
rs200909062 | snp | C/G | | | stop-gained | RAB40AL | GRCh38.p7 | X:102937471 | GGGGGGAATCGACTA[C/G]AAGACGACCACCATC | 282808 |
rs201052380 | snp | C/T | 0.00273397 | 0.0368716 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937597 | AGGAGTGATCCTGGT[C/T]TACGACATTGCAAAC | 282808 |
rs201112767 | snp | A/G | 0.00109331 | 0.023355 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102938029 | TGCCAGGATGATGCG[A/G]GGCCTCTCCTACTCC | 282808 |
rs201466487 | in-del | -/T | | | downstream-variant-500B | RAB40AL | GRCh38.p7 | X:102938656 | TATACGTAACAGATC[-/T]GTCCAGTTTGTGCAC | 282808 |
rs201700334 | snp | C/G | 2.27876e-05 | 0.00337539 | missense | RAB40AL | GRCh38.p7 | X:102938052 | CCTACTCCCTCACCA[C/G]CAGCTCCACTCACAA | 282808 |
rs267606295 | snp | C/T | | | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937790 | TTTGAGGTCAGCCCT[C/T]TGTGCAATTTCAACA | 282808 |
rs368479131 | snp | C/G | 2.30356e-05 | 0.00339371 | missense | RAB40AL | GRCh38.p7 | X:102937382 | TTCCTGCTGGTGGGC[C/G]ACAGGGACGTAGGCA | 282808 |
rs369507653 | snp | C/T | 2.3762e-05 | 0.0034468 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937603 | GATCCTGGTCTACGA[C/T]ATTGCAAACCGCTGG | 282808 |
rs369908238 | snp | C/G | 2.27876e-05 | 0.00337539 | missense | RAB40AL | GRCh38.p7 | X:102938077 | TCACAAAAGGAGCAG[C/G]CTCTGCAAAGTGAAG | 282808 |
rs370105207 | snp | G/T | | | missense | RAB40AL | GRCh38.p7 | X:102937629 | GCTGGTCTTTCGAGG[G/T]TATGGATCGATGGAT | 282808 |
rs370924999 | snp | C/G | 0.000278309 | 0.0117931 | missense | RAB40AL | GRCh38.p7 | X:102937537 | GGATACGTCGGGGCA[C/G]GGAAGATTTTGTACC | 282808 |
rs371893300 | snp | C/T | 2.47127e-05 | 0.00351507 | utr-variant-5-prime | RAB40AL | GRCh38.p7 | X:102937312 | GGCGGGGGGCGGGGC[C/T]AGCACGATGAGCGCC | 282808 |
rs372037322 | snp | C/T | 4.63242e-05 | 0.00481248 | missense | RAB40AL | GRCh38.p7 | X:102937530 | AGCTCTGGGATACGT[C/T]GGGGCAGGGAAGATT | 282808 |
rs372360800 | snp | C/G/T | 0.000299457 | 0.0122332 | missense, synonymous-codon | RAB40AL | GRCh38.p7 | X:102937390 | GGTGGGCGACAGGGA[C/G/T]GTAGGCAAGAGTGAG | 282808 |
rs374015313 | snp | A/C/G | 5.12003e-05 | 0.00505945 | synonymous-codon, missense | RAB40AL | GRCh38.p7 | X:102937684 | TGGTGTCCCTAAAAT[A/C/G]CTGGTGGGGAATCGC | 282808 |
rs374065503 | snp | A/G/T | 2.5101e-05 | 0.00354258 | utr-variant-5-prime | RAB40AL | GRCh38.p7 | X:102937305 | TGGCCCAGGCGGGGG[A/G/T]CGGGGCCAGCACGAT | 282808 |
rs374307480 | snp | C/T | 0.00032671 | 0.0127769 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937351 | CCCCGACCAGGCCTA[C/T]GACTTCCTGCTCAAG | 282808 |
rs374632220 | snp | C/T | 2.27876e-05 | 0.00337539 | missense | RAB40AL | GRCh38.p7 | X:102938079 | ACAAAAGGAGCAGCC[C/T]CTGCAAAGTGAAGAT | 282808 |
rs374718857 | snp | C/T | 2.30211e-05 | 0.00339264 | missense | RAB40AL | GRCh38.p7 | X:102937392 | TGGGCGACAGGGACG[C/T]AGGCAAGAGTGAGAT | 282808 |
rs375190882 | snp | C/T | 2.33577e-05 | 0.00341735 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102937576 | CTCCTACTCTCGTGG[C/T]GCACAAGGAGTGATC | 282808 |
rs376927996 | snp | C/G | 2.27884e-05 | 0.00337545 | missense | RAB40AL | GRCh38.p7 | X:102938092 | CCTCTGCAAAGTGAA[C/G]ATCGTCTGCCCACCC | 282808 |
rs377088667 | snp | C/T | 4.55747e-05 | 0.00477339 | synonymous-codon | RAB40AL | GRCh38.p7 | X:102938038 | GATGCGAGGCCTCTC[C/T]TACTCCCTCACCACC | 282808 |
rs386826706 | multinucleotide-polymorphism | AGT/GGC | | | cds-indel | RAB40AL | GRCh38.p7 | X:102937400 | AGGGACGTAGGCAAG[AGT/GGC]GAGATCCTGGAGAGC | 282808 |
rs566080853 | snp | A/G | | | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936222 | CACAGACACACACAG[A/G]GCCACTTTTACCTTT | 282808 |
rs745707973 | in-del | -/ATTG | 0.000529661 | 0.016265 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936482 | AATCTAAAACCCTTC[-/ATTG]ATCTATGCATGCGTT | 282808 |
rs745798126 | snp | C/G | 9.79384e-05 | 0.00699711 | utr-variant-5-prime | RAB40AL | GRCh38.p7 | X:102937318 | GGGCGGGGCCAGCAC[C/G]ATGAGCGCCCCGGGC | 282808 |
rs745807694 | snp | A/C | 2.35838e-05 | 0.00343385 | missense | RAB40AL | GRCh38.p7 | X:102937757 | CAGGCCTACGCCGAG[A/C]GCCTGGGCGTGACCT | 282808 |
rs745921835 | snp | C/G/T | 4.58997e-05 | 0.00479042 | utr-variant-3-prime | RAB40AL | GRCh38.p7 | X:102938179 | CCAAAAGGAAACAAG[C/G/T]TGGAATCGCTCCAGG | 282808 |
rs746183617 | snp | A/C | 2.27996e-05 | 0.00337628 | missense | RAB40AL | GRCh38.p7 | X:102937468 | CCTGGGGGGAATCGA[A/C]TACAAGACGACCACC | 282808 |
rs746389417 | snp | G/T | | | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936962 | AACACATCTTAGTCT[G/T]CTTCCTATCTCATAC | 282808 |
rs746491470 | snp | C/G | 2.50919e-05 | 0.00354194 | missense | RAB40AL | GRCh38.p7 | X:102937651 | TCGATGGATTAAGAA[C/G]ATTGAGGAACATGCC | 282808 |
rs747262736 | snp | A/T | 2.28344e-05 | 0.00337886 | missense | RAB40AL | GRCh38.p7 | X:102938138 | AACTGCACCAGAAAC[A/T]GCTGCAAAATTTCTT | 282808 |
rs747312600 | snp | A/G | | | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936528 | CTTTCTTGGCTGAAT[A/G]TTATTTATGAGACAC | 282808 |
rs747476866 | snp | C/G | 0.000319653 | 0.0126382 | missense | RAB40AL | GRCh38.p7 | X:102937416 | GTGAGATCCTGGAGA[C/G]CCTGCAGGACGGCAC | 282808 |
rs747500151 | in-del | -/A | 6.8362e-05 | 0.00584605 | frameshift-variant | RAB40AL | GRCh38.p7 | X:102938029 | TGCCAGGATGATGCG[-/A]GGCCTCTCCTACTCC | 282808 |
rs747750369 | snp | G/T | 2.28311e-05 | 0.00337861 | missense | RAB40AL | GRCh38.p7 | X:102937493 | ACCACCATCCTGCTG[G/T]ACGGCCAGCGGGTGA | 282808 |
rs747774200 | snp | A/G | 0.000529661 | 0.016265 | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936249 | CTTTTTCTTTTGCAA[A/G]TTAAAAAAAAATTCT | 282808 |
rs748294368 | snp | A/G | | | upstream-variant-2KB | RAB40AL | GRCh38.p7 | X:102936206 | TCATCCTGCCCCCAT[A/G]CACAGACACACACAG | 282808 |
rs748398721 | snp | A/G | 0.000529661 | 0.016265 | missense | RAB40AL | GRCh38.p7 | X:102937803 | CTCTGTGCAATTTCA[A/G]CATCATAGAGTCTTT | 282808 |
rs748399564 | snp | C/G | 2.28027e-05 | 0.00337651 | missense | RAB40AL | GRCh38.p7 | X:102937919 | TGCTGCCGCACCATC[C/G]TGTCCTGCACACCTG | 282808 |
rs748691058 | snp | G/T | 2.3822e-05 | 0.00345115 | missense | RAB40AL | GRCh38.p7 | X:102937335 | TGAGCGCCCCGGGCA[G/T]CCCCGACCAGGCCTA | 282808 |