Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs763351020 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 35 | ||
rs599839 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 27 | |||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs3091244 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 17 | |||
rs11206510 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 16 | |||
rs1265538677 | 0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 | 10 | ||
rs1417938 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 10 | ||
rs1466535 | 0.790 | 0.160 | 12 | 57140687 | intron variant | G/A;C | snv | 9 | |||
rs3877899 | 0.827 | 0.160 | 5 | 42801166 | missense variant | C/A;T | snv | 4.0E-06; 0.20 | 7 | ||
rs12191786 | 0.851 | 0.120 | 6 | 22004398 | intron variant | C/A;T | snv | 4 | |||
rs61758388 | 0.851 | 0.360 | 16 | 17470454 | missense variant | C/A;G | snv | 2.7E-02 | 4 | ||
rs486055 | 0.925 | 0.120 | 11 | 102779693 | missense variant | C/G;T | snv | 1.2E-05; 0.10 | 3 | ||
rs764522 | 0.882 | 0.080 | 3 | 30605058 | upstream gene variant | G/A;C | snv | 3 | |||
rs137854485 | 0.925 | 0.160 | 15 | 48515402 | missense variant | G/A | snv | 2 | |||
rs201191171 | 0.925 | 0.080 | 20 | 46013279 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs2234681 | 1.000 | 0.040 | 20 | 46008773 | upstream gene variant | ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC | delins | 2 | |||
rs3019885 | 0.925 | 0.120 | 8 | 117013406 | intron variant | T/A;G | snv | 2 | |||
rs773474756 | 0.925 | 0.080 | 11 | 102790467 | missense variant | T/C | snv | 8.1E-06 | 2 | ||
rs1057518075 | 1.000 | 0.040 | 2 | 188995061 | stop gained | C/T | snv | 1 | |||
rs1418184396 | 1.000 | 0.040 | 17 | 1776722 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs1795061 | 1.000 | 0.040 | 1 | 214235937 | intergenic variant | T/C;G | snv | 1 | |||
rs2070863 | 1.000 | 0.040 | 17 | 1745208 | missense variant | C/G;T | snv | 0.24 | 1 |