Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913227 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 1 | |||
rs13006529 | 0.851 | 0.080 | 2 | 201217736 | missense variant | T/A | snv | 0.41 | 0.42 | 1 | |
rs3731249 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 1 | ||
rs1057519955 | 1.000 | 0.080 | 2 | 218584682 | missense variant | C/T | snv | 1 | |||
rs267599211 | 0.882 | 0.080 | 2 | 218584683 | missense variant | C/T | snv | 1 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 1 | |
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 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 | ||
rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 1 | |
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 1 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
rs137854599 | 0.882 | 0.080 | 9 | 21971093 | missense variant | C/G;T | snv | 2 | |||
rs1057519885 | 0.925 | 0.080 | 20 | 20052443 | missense variant | G/A | snv | 2 | |||
rs267600971 | 0.882 | 0.080 | 6 | 31972346 | missense variant | G/A | snv | 2 | |||
rs1057519894 | 0.925 | 0.160 | 7 | 148811650 | missense variant | T/A;G | snv | 2 | |||
rs1057519880 | 0.925 | 0.080 | 19 | 49665875 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs1057519907 | 0.925 | 0.120 | 4 | 54728057 | missense variant | A/C | snv | 2 | |||
rs868438023 | 0.882 | 0.080 | 15 | 40382906 | missense variant | C/T | snv | 2 | |||
rs2153977 | 0.807 | 0.240 | 1 | 113537449 | intron variant | C/T | snv | 0.28 | 2 | ||
rs1805006 | 0.790 | 0.080 | 16 | 89919510 | missense variant | C/A;G | snv | 5.2E-03; 4.0E-06 | 2 | ||
rs910873 | 0.882 | 0.160 | 20 | 34583968 | intron variant | G/A;C | snv | 2 | |||
rs763733111 | 0.925 | 0.120 | 9 | 125149801 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs10816595 | 0.851 | 0.080 | 9 | 107947454 | regulatory region variant | A/G | snv | 0.33 | 3 |