Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 21 | ||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 1 | ||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
rs1801278 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 2 | ||
rs1057519736 | 0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv | 1 | |||
rs121913233 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 21 | |||
rs1057519855 | 0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv | 1 | |||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 4 | |
rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 35 | |||
rs121913483 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 23 | ||
rs78311289 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 11 | ||
rs121913485 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 9 | |||
rs121913484 | 0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv | 5 | |||
rs28931615 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 3 | |||
rs121913480 | 1.000 | 0.120 | 4 | 1806604 | missense variant | G/T | snv | 2 | |||
rs587779383 | 0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv | 2 | |||
rs869320694 | 0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv | 7 | |||
rs796065354 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 1 | |||
rs587778967 | 0.925 | 0.200 | 3 | 36993548 | start lost | A/C;G | snv | 3 | |||
rs876658923 | 1.000 | 0.120 | 3 | 36993593 | frameshift variant | TGAACCG/- | delins | 1 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 1 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 1 | |||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 1 | |||
rs121913400 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 17 | |||
rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 14 |