Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs311678 | 1.000 | 0.040 | 6 | 73425293 | synonymous variant | C/T | snv | 0.71 | 0.72 | 2 | |
rs3219489 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 24 | |
rs333 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 23 | ||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs3742330 | 0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 | 24 | ||
rs3748067 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 21 | ||
rs3761548 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 42 | |||
rs535915558 | 0.827 | 0.120 | 12 | 55958494 | missense variant | C/T | snv | 2.0E-05 | 6 | ||
rs5743836 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 31 | ||
rs6052130 | 1.000 | 0.040 | 20 | 3863021 | intron variant | C/A | snv | 9.5E-02 | 2 | ||
rs7133268 | 1.000 | 0.040 | 12 | 125024464 | intron variant | A/G | snv | 0.48 | 1 | ||
rs7208422 | 0.807 | 0.120 | 17 | 78134494 | missense variant | A/C;T | snv | 4.0E-06; 0.51 | 6 | ||
rs7873784 | 0.752 | 0.440 | 9 | 117716658 | 3 prime UTR variant | G/A;C;T | snv | 11 | |||
rs807181 | 0.851 | 0.120 | X | 108090354 | intron variant | G/C;T | snv | 4 | |||
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 | |
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 |