Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7873784 | 0.752 | 0.440 | 9 | 117716658 | 3 prime UTR variant | G/A;C;T | snv | 11 | |||
rs5277 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 9 | ||
rs386352319 | 0.827 | 0.080 | 11 | 128911724 | missense variant | G/A;C | snv | 8 | |||
rs121908874 | 0.807 | 0.080 | 14 | 81143584 | missense variant | T/C | snv | 7 | |||
rs7968585 | 0.851 | 0.160 | 12 | 47838310 | downstream gene variant | C/G;T | snv | 7 | |||
rs121912535 | 0.827 | 0.240 | 2 | 48688427 | missense variant | A/C | snv | 6 | |||
rs386352352 | 0.851 | 0.080 | 19 | 14097604 | missense variant | A/C | snv | 6 | |||
rs1290398674 | 0.851 | 0.240 | 20 | 58854075 | missense variant | G/A;T | snv | 5 | |||
rs1268298845 | 0.882 | 0.120 | 5 | 112780878 | missense variant | G/A | snv | 4.0E-06 | 4 | ||
rs1535989 | 0.925 | 0.080 | 13 | 105370372 | intergenic variant | A/G;T | snv | 4 | |||
rs386352318 | 0.925 | 0.080 | 11 | 128911776 | missense variant | T/G | snv | 4 | |||
rs756363791 | 0.882 | 0.080 | 3 | 9756823 | missense variant | G/A | snv | 2.0E-05 | 4 | ||
rs778826879 | 16 | 30121948 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 3 | ||||
rs146462069 | X | 131278706 | missense variant | T/C;G | snv | 3.8E-05; 9.5E-03 | 2 | ||||
rs2276020 | 1.000 | 0.120 | 11 | 67490085 | missense variant | C/G;T | snv | 3.4E-02 | 2 | ||
rs370574590 | 1.000 | 0.080 | 1 | 55058628 | missense variant | G/A;T | snv | 3.2E-05; 1.2E-05 | 2 | ||
rs2720574 | 8 | 17578682 | intron variant | C/A;G;T | snv | 1 | |||||
rs386834263 | 3 | 53673113 | missense variant | G/C | snv | 1 | |||||
rs4648310 | 1 | 186671393 | downstream gene variant | T/C;G | snv | 1 | |||||
rs939481814 | 2 | 233767063 | synonymous variant | A/T | snv | 1 | |||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs746497256 | 0.925 | 0.080 | 2 | 177231925 | synonymous variant | A/G | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs536562413 | 0.732 | 0.240 | 2 | 47799934 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 15 | |
rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 6 | ||
rs774679649 | 1 | 159713878 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 1 |