Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs799917 | 0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 | 18 | ||
rs7958904 | 0.724 | 0.200 | 12 | 53963768 | non coding transcript exon variant | C/A;G | snv | 15 | |||
rs786202962 | 0.701 | 0.320 | 17 | 7675085 | missense variant | C/A;T | snv | 4.0E-06 | 21 | ||
rs77381814 | 0.882 | 0.080 | 14 | 103699410 | missense variant | C/T | snv | 1.5E-03 | 5.9E-03 | 3 | |
rs768873896 | 0.790 | 0.160 | 1 | 11794822 | missense variant | C/G;T | snv | 8.0E-06; 2.4E-05 | 7 | ||
rs767649 | 0.695 | 0.480 | 21 | 25572410 | intron variant | T/A | snv | 7.5E-02 | 18 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs763110 | 0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 | 30 | ||
rs759412116 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 55 | ||
rs752742313 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 36 | ||
rs750553272 | 0.851 | 0.080 | 2 | 177230898 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 4 | |
rs746700511 | 0.851 | 0.080 | 22 | 37665657 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
rs7372209 | 0.807 | 0.160 | 3 | 37969217 | intron variant | T/C | snv | 0.77 | 7 | ||
rs7248320 | 0.776 | 0.160 | 19 | 48256972 | non coding transcript exon variant | G/A | snv | 0.65 | 8 | ||
rs7213430 | 0.851 | 0.080 | 17 | 61682813 | 3 prime UTR variant | G/A | snv | 0.61 | 6 | ||
rs719250 | 0.827 | 0.200 | 2 | 102007256 | intron variant | C/T | snv | 0.11 | 5 | ||
rs712829 | 0.776 | 0.120 | 7 | 55019062 | 5 prime UTR variant | G/C;T | snv | 8 | |||
rs7083506 | 0.882 | 0.080 | 10 | 86439911 | intron variant | C/T | snv | 0.37 | 3 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 62 | ||
rs67841474 | 0.882 | 0.080 | 6 | 31412384 | frameshift variant | G/-;GG | delins | 0.21 | 0.19 | 3 | |
rs673 | 0.882 | 0.080 | 6 | 31575318 | upstream gene variant | G/A | snv | 1.8E-02 | 4 | ||
rs587782329 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 23 | |||
rs5757465 | 0.882 | 0.080 | 22 | 39081118 | synonymous variant | T/C | snv | 0.37 | 0.31 | 3 | |
rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 |