Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1051740 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 56 | |
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 32 | |
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
rs1130864 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 27 | ||
rs5277 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 9 | ||
rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 6 | ||
rs370574590 | 1.000 | 0.080 | 1 | 55058628 | missense variant | G/A;T | snv | 3.2E-05; 1.2E-05 | 2 | ||
rs4648310 | 1 | 186671393 | downstream gene variant | T/C;G | snv | 1 | |||||
rs774679649 | 1 | 159713878 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs1042821 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 16 | ||
rs2070959 | 0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 | 16 | |
rs536562413 | 0.732 | 0.240 | 2 | 47799934 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 15 | |
rs121912532 | 0.776 | 0.280 | 2 | 48688065 | missense variant | C/A;G;T | snv | 1.2E-05 | 12 | ||
rs1105879 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 11 | |
rs2302615 | 0.807 | 0.120 | 2 | 10448012 | intron variant | C/T | snv | 0.31 | 7 | ||
rs121912535 | 0.827 | 0.240 | 2 | 48688427 | missense variant | A/C | snv | 6 | |||
rs746497256 | 0.925 | 0.080 | 2 | 177231925 | synonymous variant | A/G | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs4952490 | 1.000 | 0.080 | 2 | 40145564 | intron variant | A/G | snv | 0.33 | 2 | ||
rs939481814 | 2 | 233767063 | synonymous variant | A/T | snv | 1 | |||||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 |