Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 48 | |||
rs121912664 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 44 | ||
rs778212685 | 0.827 | 0.120 | 22 | 28712015 | missense variant | C/A;G;T | snv | 4.0E-06 | 8 | ||
rs768891111 | 0.851 | 0.080 | 14 | 103699474 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs747463591 | 0.882 | 0.080 | 10 | 59906391 | missense variant | C/A;G;T | snv | 4.9E-06; 9.9E-06 | 3 | ||
rs78929565 | 0.882 | 0.080 | 4 | 55539035 | intron variant | C/A;T | snv | 3 | |||
rs925487 | 0.925 | 0.080 | 9 | 97874116 | regulatory region variant | C/A;T | snv | 2 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 | ||
rs2245214 | 0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 | 6 | ||
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs966423 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 11 | |||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 | ||
rs56391007 | 0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 | 16 | |
rs944289 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 16 | ||
rs2221903 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 12 | ||
rs116909374 | 0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 | 11 | ||
rs12508721 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 11 | ||
rs56062135 | 0.790 | 0.200 | 15 | 67163292 | intron variant | C/T | snv | 0.18 | 8 | ||
rs925489 | 0.882 | 0.080 | 9 | 97784318 | intron variant | C/T | snv | 0.71 | 6 | ||
rs78201625 | 0.851 | 0.080 | 10 | 113577182 | missense variant | C/T | snv | 2.4E-03 | 1.8E-03 | 4 | |
rs12769288 | 0.882 | 0.080 | 10 | 129488086 | intron variant | C/T | snv | 0.10 | 3 | ||
rs1365943053 | 0.882 | 0.080 | 9 | 95516630 | missense variant | C/T | snv | 7.0E-06 | 3 |