Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 1 | ||
rs777919630 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
rs3213180 | 0.925 | 0.120 | 20 | 33675818 | 3 prime UTR variant | G/C | snv | 7.6E-02 | 1 | ||
rs1057519830 | 1.000 | 0.040 | 7 | 55163737 | missense variant | C/T | snv | 1 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 1 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 1 | |||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 1 | |||
rs121913433 | 1.000 | 0.040 | 7 | 55174771 | missense variant | A/G | snv | 1 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 1 | |
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 1 | |
rs121909250 | 1.000 | 0.040 | 13 | 110719736 | missense variant | G/C | snv | 1 | |||
rs121909251 | 1.000 | 0.040 | 13 | 110719739 | missense variant | A/G | snv | 1 | |||
rs121909252 | 1.000 | 0.040 | 13 | 110719667 | missense variant | C/A | snv | 1 | |||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 1 | ||
rs121909237 | 1.000 | 0.040 | 10 | 87933121 | missense variant | C/G | snv | 1 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs1131691036 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 1 | |||
rs1972597 | 1.000 | 0.040 | 17 | 77598082 | intron variant | T/C | snv | 0.31 | 2 | ||
rs3862188 | 1.000 | 0.040 | 1 | 247702471 | intron variant | T/C | snv | 0.44 | 2 | ||
rs2238151 | 1.000 | 0.040 | 12 | 111774029 | intron variant | T/C | snv | 0.52 | 2 | ||
rs1057519904 | 0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv | 2 | |||
rs1057519905 | 0.925 | 0.080 | 6 | 27872234 | missense variant | T/C | snv | 2 | |||
rs1057519824 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 2 | |||
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 2 |