Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2106261 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 11 | |||
rs11556924 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 21 | ||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs1346044 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 23 | |
rs1010 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 7 | |||
rs750996166 | 0.925 | 0.040 | 1 | 161041409 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs660339 | 0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 | 24 | |
rs46522 | 0.807 | 0.120 | 17 | 48911235 | non coding transcript exon variant | C/T | snv | 0.40 | 8 | ||
rs76992529 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 36 | |
rs2295490 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 16 | ||
rs12564445 | 0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 | 5 | ||
rs3850641 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 17 | ||
rs3861950 | 0.827 | 0.160 | 1 | 173187153 | intron variant | T/C | snv | 0.47 | 7 | ||
rs2453021 | 0.807 | 0.080 | 1 | 7929506 | intron variant | C/A;T | snv | 6 | |||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs5743810 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 21 | |
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 | |
rs1927911 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 28 | ||
rs5743551 | 0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv | 12 | |||
rs5743611 | 0.807 | 0.160 | 4 | 38798593 | missense variant | C/G | snv | 6.9E-02 | 7.1E-02 | 7 | |
rs1866389 | 0.790 | 0.080 | 5 | 80065442 | missense variant | G/C | snv | 0.17 | 0.17 | 9 | |
rs4803455 | 0.752 | 0.280 | 19 | 41345604 | intron variant | C/A | snv | 0.51 | 11 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 93 |