Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs175080 | 0.776 | 0.240 | 14 | 75047125 | missense variant | G/A | snv | 0.40 | 0.43 | 9 | |
rs807183 | 0.851 | 0.120 | X | 108094263 | intron variant | G/A | snv | 0.51 | 4 | ||
rs8305 | 0.882 | 0.120 | 18 | 54294435 | missense variant | G/A | snv | 0.72 | 0.78 | 4 | |
rs17102999 | 0.925 | 0.120 | 14 | 75046831 | missense variant | G/A | snv | 1.3E-02 | 9.8E-03 | 2 | |
rs7873784 | 0.752 | 0.440 | 9 | 117716658 | 3 prime UTR variant | G/A;C;T | snv | 11 | |||
rs3761548 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 42 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs807181 | 0.851 | 0.120 | X | 108090354 | intron variant | G/C;T | snv | 4 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs333 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 23 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs2232365 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 16 | |||
rs2232641 | 0.851 | 0.160 | 13 | 108209297 | missense variant | T/C | snv | 1.5E-03 | 5.7E-04 | 4 | |
rs3087399 | 0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 | 4 | |
rs2516448 | 0.827 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv | 10 | |||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 |