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 | |
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 | ||
rs2516448 | 0.827 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv | 10 | |||
rs535915558 | 0.827 | 0.120 | 12 | 55958494 | missense variant | C/T | snv | 2.0E-05 | 6 | ||
rs7208422 | 0.807 | 0.120 | 17 | 78134494 | missense variant | A/C;T | snv | 4.0E-06; 0.51 | 6 | ||
rs3087399 | 0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 | 4 | |
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 | |
rs17102999 | 0.925 | 0.120 | 14 | 75046831 | missense variant | G/A | snv | 1.3E-02 | 9.8E-03 | 2 | |
rs3087386 | 0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 | 8 | |
rs2232641 | 0.851 | 0.160 | 13 | 108209297 | missense variant | T/C | snv | 1.5E-03 | 5.7E-04 | 4 | |
rs175080 | 0.776 | 0.240 | 14 | 75047125 | missense variant | G/A | snv | 0.40 | 0.43 | 9 | |
rs3748067 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 21 | ||
rs1143643 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 10 | ||
rs3219489 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 24 | |
rs1063320 | 0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv | 12 | |||
rs2274223 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 40 | |
rs5743836 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 31 | ||
rs7873784 | 0.752 | 0.440 | 9 | 117716658 | 3 prime UTR variant | G/A;C;T | snv | 11 | |||
rs2232365 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 16 | |||
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs333 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 23 | ||
rs1801157 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 46 |