Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs786200920 | 1.000 | 0.160 | 13 | 102862640 | frameshift variant | A/- | delins | 1 | |||
rs752661599 | 1.000 | 0.160 | 13 | 102872262 | frameshift variant | A/-;AA | delins | 1 | |||
rs4150351 | 0.925 | 0.160 | 13 | 102870617 | intron variant | A/C;T | snv | 2 | |||
rs751402 | 0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 | 15 | ||
rs2230641 | 0.807 | 0.240 | 5 | 87399457 | missense variant | A/G;T | snv | 0.18 | 0.17 | 8 | |
rs267607281 | 1.000 | 0.160 | 13 | 102846349 | missense variant | C/A | snv | 1 | |||
rs121434574 | 0.925 | 0.240 | 13 | 102852244 | missense variant | C/A;T | snv | 4.0E-06 | 2 | ||
rs121434571 | 1.000 | 0.160 | 13 | 102866687 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 1 | ||
rs4253211 | 0.882 | 0.240 | 10 | 49470271 | missense variant | C/G;T | snv | 7.1E-02; 2.0E-05 | 3 | ||
rs121434577 | 1.000 | 0.160 | 13 | 102854313 | stop gained | C/G;T | snv | 1 | |||
rs1244074570 | 1.000 | 0.160 | 13 | 102866665 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||
rs2094258 | 0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 | 20 | ||
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs873601 | 0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 | 25 | ||
rs759843019 | 0.807 | 0.240 | 16 | 13920188 | missense variant | G/A | snv | 8.2E-06 | 7.0E-06 | 6 | |
rs121434576 | 1.000 | 0.160 | 13 | 102868199 | missense variant | G/A | snv | 2.4E-05 | 3.5E-05 | 1 | |
rs561841803 | 1.000 | 0.160 | 3 | 14158384 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |
rs2227869 | 0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 | 9 | ||
rs121434570 | 0.925 | 0.160 | 13 | 102872397 | stop gained | G/A;T | snv | 8.0E-06; 8.0E-06 | 2 | ||
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
rs267607280 | 1.000 | 0.160 | 13 | 102873283 | missense variant | G/C | snv | 1 | |||
rs9514067 | 1.000 | 0.160 | 13 | 102875580 | stop gained | G/C;T | snv | 1.00; 1.3E-04 | 1 | ||
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs786200919 | 1.000 | 0.160 | 13 | 102862263 | frameshift variant | GGAA/- | delins | 1 | |||
rs143305574 | 0.925 | 0.160 | 10 | 49517092 | missense variant | T/A;C | snv | 8.0E-06; 6.8E-05 | 2 |