Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2072906 | 0.851 | 0.160 | 22 | 43937292 | intron variant | A/G | snv | 0.25 | 0.20 | 4 | |
rs2294918 | 0.925 | 0.040 | 22 | 43946236 | missense variant | A/G | snv | 0.68 | 0.70 | 3 | |
rs6993 | 0.925 | 0.080 | 16 | 58707463 | 3 prime UTR variant | A/G | snv | 0.59 | 3 | ||
rs11599176 | 0.925 | 0.080 | 10 | 67894017 | intron variant | A/G | snv | 0.11 | 2 | ||
rs139271658 | 1.000 | 0.040 | 9 | 9797383 | intron variant | A/G | snv | 1.9E-02 | 2 | ||
rs3761472 | 0.925 | 0.040 | 22 | 43972242 | missense variant | A/G | snv | 0.21 | 0.18 | 2 | |
rs139051 | 1.000 | 0.040 | 22 | 43928796 | intron variant | A/G | snv | 0.56 | 0.59 | 1 | |
rs143392071 | 1.000 | 0.040 | 22 | 43933050 | missense variant | A/G | snv | 7.2E-04 | 2.1E-04 | 1 | |
rs1805074 | 1.000 | 0.040 | 5 | 79028529 | missense variant | A/G | snv | 0.27 | 0.33 | 1 | |
rs200848339 | 1.000 | 0.040 | 9 | 117713001 | synonymous variant | A/G | snv | 2.4E-05 | 1 | ||
rs2303861 | 1.000 | 0.040 | 11 | 44618466 | intron variant | A/G | snv | 0.73 | 1 | ||
rs3772627 | 1.000 | 0.040 | 3 | 148712467 | intron variant | A/G | snv | 0.44 | 1 | ||
rs781469754 | 1.000 | 0.040 | 4 | 99591691 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs855791 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 38 | ||
rs11932595 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 12 | |||
rs2454206 | 0.851 | 0.160 | 4 | 105275794 | missense variant | A/G;T | snv | 0.30; 6.4E-06 | 6 | ||
rs2276736 | 1.000 | 0.040 | 3 | 148708086 | intron variant | A/G;T | snv | 1 | |||
rs762049291 | 1.000 | 0.040 | 3 | 46358410 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs9817981 | 1.000 | 0.040 | 3 | 189845741 | intron variant | A/G;T | snv | 1 | |||
rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
rs2954029 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 14 | ||
rs4844880 | 0.882 | 0.240 | 1 | 209697571 | intron variant | A/T | snv | 0.70 | 4 | ||
rs5854292 | 0.851 | 0.080 | 3 | 168680960 | intron variant | AA/-;A;AAA | delins | 5 | |||
rs1412189378 | 1.000 | 0.040 | 4 | 99583404 | missense variant | C/A | snv | 1 |