Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs1524668 | 0.851 | 0.160 | 2 | 9557243 | upstream gene variant | A/C | snv | 0.64 | 4 | ||
rs8003379 | 0.882 | 0.160 | 14 | 64406881 | intron variant | A/C | snv | 0.23 | 3 | ||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 78 | ||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 63 | ||
rs10757278 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 44 | ||
rs10757274 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 22 | ||
rs2383207 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 22 | ||
rs1265538677 | 0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 | 10 | ||
rs12692386 | 0.827 | 0.160 | 2 | 9555777 | 5 prime UTR variant | A/G | snv | 0.72 | 5 | ||
rs12133641 | 0.925 | 0.040 | 1 | 154455807 | intron variant | A/G | snv | 0.44 | 3 | ||
rs2306691 | 1.000 | 0.040 | 12 | 57145019 | missense variant | A/G | snv | 2.0E-05 | 2.1E-05 | 1 | |
rs9316871 | 1.000 | 0.040 | 13 | 22287782 | intergenic variant | A/G | snv | 0.22 | 1 | ||
rs13382862 | 1.000 | 0.040 | 2 | 20682689 | upstream gene variant | A/G;T | snv | 0.59 | 1 | ||
rs6674171 | 1.000 | 0.040 | 1 | 154519207 | intron variant | A/G;T | snv | 0.19 | 1 | ||
rs2043211 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 29 | |
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 | |||
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs3764261 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 26 | ||
rs61758388 | 0.851 | 0.360 | 16 | 17470454 | missense variant | C/A;G | snv | 2.7E-02 | 4 |