Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs9514067 | 1.000 | 0.160 | 13 | 102875580 | stop gained | G/C;T | snv | 1.00; 1.3E-04 | 1 | ||
rs6471482 | 1.000 | 0.120 | 8 | 86667075 | stop gained | A/C;T | snv | 0.89 | 0.89 | 1 | |
rs949177 | 1.000 | 0.080 | 11 | 71441415 | missense variant | A/C;G;T | snv | 8.0E-06; 0.87 | 1 | ||
rs2815822 | 1.000 | 0.080 | 6 | 6320575 | intron variant | T/A;C;G | snv | 6.9E-06; 0.87 | 1 | ||
rs2227956 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 1 | ||
rs1051931 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 1 | |
rs2306894 | 1.000 | 12 | 10098846 | missense variant | C/A;G | snv | 0.75 | 1 | |||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 2 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 2 | |
rs6467 | 0.925 | 0.320 | 6 | 32039081 | missense variant | C/A;G;T | snv | 0.64; 2.3E-03 | 2 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 1 | |
rs1341667 | 0.925 | 0.040 | 10 | 68882104 | missense variant | T/C | snv | 0.62 | 0.57 | 1 | |
rs2229992 | 0.827 | 0.200 | 5 | 112827157 | stop gained | T/C;G | snv | 0.58 | 0.47 | 1 | |
rs2073711 | 0.807 | 0.160 | 15 | 65201874 | missense variant | A/G | snv | 0.56 | 0.61 | 1 | |
rs2240340 | 1.000 | 0.120 | 1 | 17336144 | intron variant | T/C | snv | 0.56 | 0.54 | 1 | |
rs237025 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 1 | |
rs3733402 | 1.000 | 0.040 | 4 | 186236880 | missense variant | G/A;C | snv | 0.54 | 1 | ||
rs2305764 | 0.776 | 0.360 | 19 | 17203024 | non coding transcript exon variant | G/A | snv | 0.52 | 0.50 | 1 | |
rs9344 | 0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 | 3 | |
rs25640 | 5 | 119475838 | missense variant | G/A;C | snv | 0.45 | 1 | ||||
rs1805010 | 0.752 | 0.400 | 16 | 27344882 | missense variant | A/C;G;T | snv | 0.45 | 1 | ||
rs2274700 | 0.776 | 0.240 | 1 | 196713817 | synonymous variant | G/A;C;T | snv | 0.44 | 1 | ||
rs324981 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 1 | |
rs2076530 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 1 | |
rs12710260 | 1.000 | 0.080 | 19 | 11110781 | intron variant | G/A;C | snv | 1.2E-05; 0.40 | 1 |