Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1330075052 | 0.882 | 0.160 | 12 | 104215828 | missense variant | T/C | snv | 1.4E-05 | 3 | ||
rs1322643228 | 0.807 | 0.280 | 12 | 104321110 | missense variant | C/T | snv | 7.1E-06 | 6 | ||
rs3730358 | 0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 | 14 | ||
rs7669317 | 0.925 | 0.120 | 4 | 105536173 | downstream gene variant | T/C | snv | 2.9E-02 | 2 | ||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs6275 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 7 | |
rs1801028 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 24 | |
rs767413934 | 0.925 | 0.120 | 11 | 113424539 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs7620754 | 0.925 | 0.120 | 3 | 114229128 | intron variant | T/C | snv | 0.24 | 2 | ||
rs905568 | 0.925 | 0.120 | 3 | 114232449 | non coding transcript exon variant | C/A;G;T | snv | 2 | |||
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
rs2015586 | 0.925 | 0.120 | 10 | 117262226 | intron variant | C/T | snv | 0.58 | 2 | ||
rs363224 | 0.925 | 0.120 | 10 | 117263062 | intron variant | C/A | snv | 0.48 | 2 | ||
rs76980269 | 0.763 | 0.280 | 12 | 117330794 | synonymous variant | G/A | snv | 2.8E-05 | 4.2E-05 | 10 | |
rs6805251 | 0.925 | 0.120 | 3 | 119841759 | intron variant | T/A;C | snv | 4 | |||
rs6438552 | 0.790 | 0.280 | 3 | 119912967 | intron variant | A/G | snv | 0.54 | 9 | ||
rs9878473 | 0.925 | 0.120 | 3 | 119931941 | intron variant | T/C | snv | 0.54 | 2 | ||
rs334558 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 20 | ||
rs3755557 | 0.807 | 0.280 | 3 | 120096110 | non coding transcript exon variant | T/A | snv | 0.14 | 6 | ||
rs3943552 | 0.925 | 0.120 | 2 | 120824482 | intron variant | C/T | snv | 0.14 | 2 | ||
rs1806201 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 8 | |
rs781598341 | 0.827 | 0.240 | 6 | 159682510 | missense variant | T/C | snv | 4.0E-06 | 5 | ||
rs953038635 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 51 |