Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs753066745 | X | 81277164 | missense variant | C/T | snv | 1.7E-05 | 9.5E-06 | 2 | |||
rs771308693 | 8 | 140752306 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 2 | |||
rs664589 | 0.925 | 0.080 | 11 | 65501878 | non coding transcript exon variant | C/G | snv | 6.0E-02 | 3.8E-02 | 4 | |
rs41291957 | 0.882 | 0.200 | 5 | 149428827 | intron variant | G/A | snv | 0.12 | 7 | ||
rs13278062 | 0.807 | 0.200 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv | 8 | |||
rs1057519874 | 0.807 | 0.120 | 7 | 6387261 | missense variant | C/A;T | snv | 9 | |||
rs121913492 | 0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv | 11 | |||
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
rs1285136498 | 0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv | 13 | |||
rs944289 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 16 | ||
rs6505162 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 25 | ||
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs11547328 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 27 | ||
rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 28 | |||
rs752021744 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 29 | ||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 31 | |||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 32 | |
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs1444669684 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 36 | |||
rs920778 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 36 | ||
rs3732379 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 38 | |
rs1800625 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 39 | ||
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs121912664 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 44 |