Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1475539937 | 0.882 | 0.120 | 3 | 52223085 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs3764879 | 0.807 | 0.320 | X | 12906578 | intron variant | C/G | snv | 0.30 | 6 | ||
rs3764880 | 0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 | 11 | |
rs1013151 | 1.000 | 0.080 | X | 12914412 | intron variant | C/T | snv | 0.51 | 1 | ||
rs5744069 | 1.000 | 0.080 | X | 12916993 | intron variant | G/T | snv | 0.47 | 1 | ||
rs179008 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 14 | |
rs3853839 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 10 | |||
rs1634323 | 0.882 | 0.200 | X | 12870008 | intron variant | A/G | snv | 0.11 | 3 | ||
rs179019 | 0.882 | 0.160 | X | 12871850 | intron variant | A/C;T | snv | 3 | |||
rs179009 | 0.925 | 0.160 | X | 12885361 | intron variant | A/G;T | snv | 2 | |||
rs5743733 | 0.925 | 0.280 | X | 12871589 | intron variant | C/G;T | snv | 2 | |||
rs179012 | 1.000 | 0.080 | X | 12883443 | intron variant | G/A | snv | 0.42 | 1 | ||
rs179016 | 1.000 | 0.080 | X | 12876323 | intron variant | G/A;C;T | snv | 1 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs2149356 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 14 | ||
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs3775290 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 15 | ||
rs5743305 | 0.807 | 0.200 | 4 | 186068179 | upstream gene variant | T/A | snv | 0.35 | 8 | ||
rs5743314 | 0.851 | 0.160 | 4 | 186079221 | intron variant | G/C;T | snv | 5 | |||
rs13126816 | 0.925 | 0.200 | 4 | 186073024 | intron variant | G/A | snv | 0.21 | 2 | ||
rs78726532 | 1.000 | 0.080 | 4 | 186079310 | intron variant | A/G | snv | 4.0E-02 | 1 | ||
rs5743708 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 98 | |
rs5743704 | 0.763 | 0.240 | 4 | 153704799 | missense variant | C/A | snv | 2.8E-02 | 2.8E-02 | 9 | |
rs111200466 | 1.000 | 0.080 | 4 | 153684312 | 5 prime UTR variant | CGGCTGCTCGGCGTTCTCTCAGG/- | delins | 0.17 | 2 |