Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs10889677 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 40 | ||
rs1137100 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 39 | |
rs1061622 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 33 | |
rs4950928 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 33 | |||
rs12075 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 22 | |
rs3811381 | 0.763 | 0.240 | 1 | 207616743 | missense variant | C/A;G | snv | 8.0E-06; 0.24 | 11 | ||
rs2274567 | 0.776 | 0.400 | 1 | 207580276 | missense variant | A/G | snv | 0.25 | 0.21 | 10 | |
rs3480 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 8 | ||
rs758564400 | 0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs11465817 | 0.882 | 0.120 | 1 | 67255414 | intron variant | C/A;T | snv | 4 | |||
rs1921 | 1 | 1014228 | missense variant | G/A;C | snv | 0.36 | 1 | ||||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs2227982 | 0.677 | 0.480 | 2 | 241851281 | missense variant | G/A | snv | 9.2E-02 | 4.3E-02 | 24 | |
rs10204525 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 20 | ||
rs4374383 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 10 | ||
rs137852769 | 0.827 | 0.280 | 2 | 26195184 | missense variant | C/G | snv | 1.2E-03 | 1.0E-03 | 7 | |
rs4849133 | 2 | 112923864 | downstream gene variant | C/A;T | snv | 2 | |||||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs187084 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 36 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs1870377 | 0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 | 25 | |
rs698 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 20 | ||
rs72613567 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 14 |