Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 72 | ||
rs3743930 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 43 | ||
rs28940579 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 13 | ||
rs1799964 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 47 | ||
rs7834765 | 0.925 | 0.160 | 8 | 121263666 | regulatory region variant | G/T | snv | 0.32 | 2 | ||
rs958476 | 0.925 | 0.160 | 11 | 129451923 | 3 prime UTR variant | T/A;G | snv | 2 | |||
rs4984 | 0.925 | 0.160 | 2 | 70673271 | synonymous variant | G/A | snv | 0.12 | 0.15 | 3 | |
rs4664308 | 0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 | 4 | ||
rs117026326 | 0.752 | 0.440 | 7 | 74711703 | intron variant | C/T | snv | 1.3E-02 | 10 | ||
rs1143679 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 14 | |
rs2004640 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 26 | ||
rs6897932 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 25 | |
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs2397084 | 0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 | 14 | |
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs8193037 | 0.752 | 0.320 | 6 | 52186311 | upstream gene variant | G/A;T | snv | 12 | |||
rs3824662 | 0.752 | 0.320 | 10 | 8062245 | intron variant | C/A;T | snv | 11 | |||
rs396991 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 14 | ||
rs10127939 | 0.851 | 0.160 | 1 | 161548543 | missense variant | A/C;T | snv | 4.3E-02; 5.5E-02 | 5 | ||
rs2298804 | 0.851 | 0.240 | 1 | 159304102 | missense variant | A/G;T | snv | 6.6E-03 | 4 | ||
rs2295415 | 0.882 | 0.160 | 10 | 35212510 | 3 prime UTR variant | A/G | snv | 0.19 | 3 | ||
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs800292 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 33 | |
rs6677604 | 0.827 | 0.200 | 1 | 196717788 | intron variant | G/A | snv | 0.23 | 7 | ||
rs2246614 | 0.882 | 0.160 | 11 | 619789 | missense variant | T/G | snv | 0.63 | 0.59 | 3 |