Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
rs777919630 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 40 | ||
rs746682028 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 36 | ||
rs5742905 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 22 | |||
rs1344706 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 21 | |||
rs1718119 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 21 | ||
rs1555454508 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 18 | |||
rs312262717 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 18 | |||
rs1445081098 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 17 | ||
rs174576 | 0.851 | 0.200 | 11 | 61836038 | intron variant | C/A;T | snv | 14 | |||
rs3730358 | 0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 | 14 | ||
rs6994992 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 13 | |||
rs3751143 | 0.742 | 0.480 | 12 | 121184501 | missense variant | A/C;G | snv | 0.19; 4.0E-06 | 12 | ||
rs2535629 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 9 | |||
rs779867 | 0.776 | 0.120 | 3 | 7442784 | intron variant | T/C;G | snv | 9 | |||
rs1469698992 | 0.776 | 0.080 | 9 | 131190453 | missense variant | G/A | snv | 8 | |||
rs2279574 | 0.827 | 0.120 | 12 | 89351700 | missense variant | C/A;T | snv | 0.52 | 8 | ||
rs1194897557 | 0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 | 7 |