Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs5743708 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 98 | |
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 46 | |
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs3804099 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 40 | |
rs17235409 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 31 | ||
rs1800450 | 0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 | 26 | |
rs8177374 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 22 | |
rs8193036 | 0.689 | 0.600 | 6 | 52185695 | upstream gene variant | C/T | snv | 0.72 | 21 | ||
rs3024490 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 11 | |||
rs1518111 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 9 | ||
rs3021094 | 0.827 | 0.360 | 1 | 206771607 | intron variant | T/G | snv | 8.0E-02 | 8 | ||
rs1554286 | 0.790 | 0.320 | 1 | 206770888 | 5 prime UTR variant | A/G;T | snv | 0.72 | 7 | ||
rs897200 | 0.851 | 0.280 | 2 | 191153045 | upstream gene variant | T/C | snv | 0.54 | 4 | ||
rs3790622 | 0.882 | 0.320 | 1 | 206771818 | intron variant | G/A | snv | 1.5E-03 | 3 |