Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3814883 | 1.000 | 0.040 | 16 | 29983601 | synonymous variant | C/T | snv | 0.44 | 0.37 | 3 | |
rs4434138 | 1.000 | 0.040 | 3 | 52522874 | missense variant | A/G | snv | 8.0E-06; 0.44 | 0.39 | 2 | |
rs4244612 | 8 | 144516318 | missense variant | C/G | snv | 0.44 | 0.42 | 1 | |||
rs2271928 | 1 | 31662352 | missense variant | G/A;C | snv | 0.42; 4.1E-06 | 2 | ||||
rs2878628 | 0.925 | 0.040 | 3 | 52550699 | intron variant | A/G | snv | 0.42 | 0.42 | 1 | |
rs1046953 | 3 | 50159664 | synonymous variant | C/T | snv | 0.41 | 0.39 | 2 | |||
rs1972460 | 15 | 82238289 | intron variant | A/G | snv | 0.41 | 0.40 | 1 | |||
rs3744593 | 17 | 36587289 | missense variant | C/T | snv | 0.39 | 0.38 | 1 | |||
rs8049439 | 0.925 | 0.120 | 16 | 28826194 | intron variant | T/C;G | snv | 0.38 | 3 | ||
rs707938 | 6 | 31761582 | synonymous variant | A/G | snv | 0.38 | 0.44 | 3 | |||
rs2071303 | 0.882 | 0.120 | 6 | 26091108 | splice region variant | T/C | snv | 0.38 | 0.36 | 1 | |
rs9616914 | 1.000 | 0.040 | 22 | 50678709 | intron variant | G/A | snv | 0.35 | 0.36 | 3 | |
rs2071586 | 14 | 24103286 | intron variant | G/A;C | snv | 1.3E-05; 0.32 | 1 | ||||
rs11264680 | 1 | 153953602 | missense variant | T/C | snv | 0.32 | 0.27 | 1 | |||
rs1431196 | 1.000 | 0.040 | 18 | 53305732 | intron variant | A/G | snv | 0.31 | 0.30 | 2 | |
rs68178377 | 1.000 | 0.040 | 22 | 50313721 | missense variant | C/T | snv | 0.31 | 0.27 | 2 | |
rs7640 | 17 | 7703404 | missense variant | C/A;G;T | snv | 0.30; 1.6E-05 | 1 | ||||
rs644799 | 11 | 95831095 | stop gained | A/C;G;T | snv | 0.30 | 0.28 | 1 | |||
rs3751667 | 1.000 | 0.040 | 16 | 954554 | synonymous variant | C/T | snv | 0.28 | 0.29 | 4 | |
rs10193972 | 2 | 73490529 | missense variant | A/G | snv | 0.26 | 0.39 | 1 | |||
rs3735478 | 7 | 44760577 | missense variant | G/T | snv | 0.25 | 0.21 | 1 | |||
rs2302190 | 17 | 58507147 | missense variant | T/A;C | snv | 0.24 | 3 | ||||
rs3747631 | 1.000 | 0.040 | 1 | 204618441 | missense variant | G/A;C | snv | 4.0E-06; 0.20 | 3 | ||
rs11588857 | 1 | 204617919 | missense variant | G/A;T | snv | 0.20; 8.0E-06 | 2 | ||||
rs3850610 | 15 | 82552642 | intron variant | C/A | snv | 0.19 | 0.25 | 1 |