Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 28 | |||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 26 | |||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs121434595 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 19 | |||
rs1057519902 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 16 | |||
rs1052576 | 0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 | 9 | ||
rs374052197 | 0.882 | 0.040 | 1 | 13610421 | missense variant | G/A;T | snv | 8.0E-06 | 5 | ||
rs745934102 | 0.882 | 0.040 | 1 | 13607281 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 5 | |
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 51 | |||
rs11554137 | 0.742 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 | 13 | |
rs113994087 | 0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv | 12 | |||
rs2227981 | 0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 | 12 | ||
rs11568821 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 10 | |||
rs1872328 | 0.827 | 0.120 | 2 | 54168122 | intron variant | G/A | snv | 7.3E-02 | 6 | ||
rs113994088 | 0.925 | 0.080 | 2 | 29222584 | missense variant | C/G | snv | 4 | |||
rs113994089 | 0.925 | 0.120 | 2 | 29220776 | missense variant | C/G;T | snv | 4 | |||
rs1200941109 | 0.882 | 0.040 | 2 | 15940679 | frameshift variant | C/-;CC | delins | 4 | |||
rs754820004 | 2 | 224557736 | missense variant | T/C | snv | 4.0E-06 | 1 | ||||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 |