Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2232618 | 0.851 | 0.160 | 20 | 38373117 | missense variant | T/C | snv | 9.2E-02 | 0.12 | 5 | |
rs1524668 | 0.851 | 0.160 | 2 | 9557243 | upstream gene variant | A/C | snv | 0.64 | 4 | ||
rs1554162524 | 0.882 | 0.160 | 6 | 79925034 | splice acceptor variant | T/C | snv | 4 | |||
rs2721068 | 0.882 | 0.160 | 13 | 40565575 | intron variant | T/C | snv | 0.38 | 4 | ||
rs12048215 | 0.882 | 0.160 | 1 | 247421289 | intron variant | A/G | snv | 0.11 | 3 | ||
rs1764390 | 0.882 | 0.160 | 1 | 34794360 | missense variant | A/C;G;T | snv | 0.61 | 0.69 | 3 | |
rs2027432 | 0.882 | 0.160 | 1 | 247415139 | upstream gene variant | A/G;T | snv | 3 | |||
rs352162 | 0.882 | 0.160 | 3 | 52218953 | non coding transcript exon variant | T/C | snv | 0.55 | 3 | ||
rs11568821 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 10 | |||
rs414171 | 0.790 | 0.200 | 3 | 50612068 | 5 prime UTR variant | A/G;T | snv | 9 | |||
rs353291 | 0.807 | 0.200 | 5 | 149431183 | non coding transcript exon variant | T/C | snv | 0.35 | 6 | ||
rs2563298 | 0.851 | 0.200 | 5 | 140631730 | 3 prime UTR variant | C/A | snv | 0.26 | 4 | ||
rs1556408009 | 0.925 | 0.200 | X | 123900534 | stop gained | C/T | snv | 3 | |||
rs34557412 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 15 | |
rs2808630 | 0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 | 13 | ||
rs5743551 | 0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv | 12 | |||
rs653765 | 0.763 | 0.240 | 15 | 58749813 | upstream gene variant | T/C;G | snv | 0.45 | 10 | ||
rs4648068 | 0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 | 9 | ||
rs212388 | 0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv | 8 | |||
rs11465996 | 0.790 | 0.240 | 8 | 73989727 | upstream gene variant | C/G | snv | 0.25 | 7 | ||
rs17446614 | 0.851 | 0.240 | 13 | 40565740 | intron variant | G/A | snv | 0.16 | 5 | ||
rs2234246 | 0.827 | 0.240 | 6 | 41276002 | 3 prime UTR variant | C/T | snv | 0.44 | 5 | ||
rs9770242 | 0.851 | 0.240 | 7 | 106285885 | 5 prime UTR variant | C/A | snv | 0.79 | 5 | ||
rs1800777 | 0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 | 17 | |
rs3091244 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 17 |