Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2336219 | 1.000 | 0.080 | 19 | 45409148 | missense variant | G/A | snv | 0.21 | 0.19 | 2 | |
rs769483475 | 0.925 | 0.080 | 11 | 35229231 | missense variant | G/A | snv | 8.0E-06 | 3 | ||
rs353630 | 1.000 | 0.080 | 11 | 35166644 | intron variant | G/A | snv | 0.33 | 1 | ||
rs3206652 | 3 | 108046402 | 3 prime UTR variant | T/C | snv | 0.27 | 1 | ||||
rs3804639 | 3 | 108071988 | intron variant | G/T | snv | 0.28 | 1 | ||||
rs9879947 | 3 | 108046545 | 3 prime UTR variant | G/A | snv | 0.45 | 1 | ||||
rs3731499 | 0.925 | 0.080 | 3 | 48184680 | missense variant | G/A | snv | 5.7E-05 | 1.2E-04 | 3 | |
rs1219211410 | 0.925 | 0.080 | 20 | 3800494 | missense variant | T/C | snv | 3 | |||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs1156560901 | 2 | 201880120 | missense variant | A/G | snv | 1.4E-05 | 2 | ||||
rs11547328 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 22 | ||
rs200863613 | 0.925 | 0.080 | 9 | 21971061 | missense variant | C/A;T | snv | 8.5E-05 | 3.7E-04 | 6 | |
rs1063192 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 21 | |||
rs1444669684 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 36 | |||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 45 | ||
rs2306536 | 0.925 | 0.080 | 12 | 132847076 | missense variant | C/T | snv | 0.18 | 0.21 | 3 | |
rs6691378 | 0.882 | 0.160 | 1 | 203187994 | upstream gene variant | G/A | snv | 0.19 | 6 | ||
rs684559 | 1 | 111215824 | intron variant | G/A | snv | 0.27 | 1 | ||||
rs3743073 | 0.807 | 0.120 | 15 | 78617197 | intron variant | G/T | snv | 0.61 | 11 | ||
rs10420252 | 1.000 | 0.080 | 19 | 35648270 | upstream gene variant | G/A | snv | 9.7E-02 | 2 | ||
rs6510502 | 1.000 | 0.080 | 19 | 35647577 | upstream gene variant | A/C;G | snv | 2 | |||
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 45 | ||
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 27 | ||
rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 10 | |||
rs1049074086 | 0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 | 9 |