Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs34234989 | 0.882 | 0.120 | 20 | 35186731 | intron variant | A/- | delins | 0.40 | 5 | ||
rs9797861 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 5 | |||
rs17490626 | 0.882 | 0.120 | 10 | 69458890 | intron variant | G/C | snv | 8.4E-02 | 5 | ||
rs8176719 | 0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 | 4 | |
rs8176749 | 1.000 | 0.040 | 9 | 133255801 | synonymous variant | C/T | snv | 0.12 | 0.11 | 4 | |
rs4962153 | 0.925 | 0.120 | 9 | 133458632 | intron variant | A/G | snv | 0.79 | 4 | ||
rs1800775 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 4 | ||
rs1801020 | 1.000 | 0.040 | 5 | 177409531 | 5 prime UTR variant | A/G | snv | 0.65 | 0.67 | 4 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 4 | |
rs5758896 | 22 | 42719570 | intron variant | T/C | snv | 0.55 | 3 | ||||
rs643434 | 9 | 133266942 | intron variant | A/G;T | snv | 3 | |||||
rs10886430 | 10 | 119250744 | intron variant | A/G | snv | 8.8E-02 | 3 | ||||
rs7080536 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 3 | |
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 3 | ||
rs268 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 3 | |
rs6088735 | 20 | 35157873 | intergenic variant | C/T | snv | 0.25 | 3 | ||||
rs4805881 | 19 | 33405526 | intron variant | A/C | snv | 0.69 | 3 | ||||
rs12445050 | 16 | 81837364 | intron variant | C/T | snv | 9.6E-02 | 3 | ||||
rs1799810 | 1.000 | 0.040 | 2 | 127418464 | 5 prime UTR variant | A/T | snv | 0.38 | 0.44 | 3 | |
rs6136 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 3 | |
rs9390460 | 6 | 147373198 | intron variant | T/C | snv | 0.51 | 3 | ||||
rs3002416 | X | 39850941 | upstream gene variant | C/T | snv | 0.33 | 2 | ||||
rs649129 | 1.000 | 0.080 | 9 | 133278860 | upstream gene variant | T/C;G | snv | 2 | |||
rs6825454 | 1.000 | 0.080 | 4 | 154580036 | downstream gene variant | T/C | snv | 0.25 | 2 | ||
rs514659 | 0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv | 2 |