Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3218536 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 37 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs139599857 | 0.882 | 0.120 | 19 | 43545922 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 | 3 | |
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs2607775 | 0.807 | 0.160 | 3 | 14178595 | 5 prime UTR variant | C/G | snv | 0.42 | 0.43 | 8 | |
rs2470353 | 0.925 | 0.120 | 3 | 14148768 | intron variant | G/A;C;T | snv | 0.41; 1.5E-04 | 2 | ||
rs3729587 | 0.925 | 0.120 | 3 | 14167125 | intron variant | G/C | snv | 0.31 | 0.34 | 2 | |
rs3731055 | 0.925 | 0.120 | 3 | 14178939 | intron variant | C/T | snv | 1.9E-02 | 2 | ||
rs3731114 | 0.925 | 0.120 | 3 | 14165122 | intron variant | C/G | snv | 1.8E-02 | 2 | ||
rs11644322 | 0.925 | 0.120 | 16 | 79005703 | intron variant | C/T | snv | 0.22 | 3 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs2239186 | 0.882 | 0.120 | 12 | 47875627 | intron variant | A/C;G | snv | 0.17 | 5 | ||
rs145733073 | 0.925 | 0.120 | 2 | 233682175 | missense variant | T/C;G | snv | 4.0E-06; 1.4E-04 | 2 | ||
rs2235108 | 0.925 | 0.120 | 8 | 125436547 | 3 prime UTR variant | G/A | snv | 0.25 | 3 | ||
rs2980874 | 0.925 | 0.120 | 8 | 125432546 | intron variant | G/A | snv | 0.30 | 2 | ||
rs7074891 | 0.925 | 0.120 | 10 | 17146475 | 3 prime UTR variant | C/T | snv | 0.95 | 2 | ||
rs935821839 | 0.925 | 0.120 | 1 | 3727199 | missense variant | A/G | snv | 7.0E-06 | 2 | ||
rs949647240 | 0.925 | 0.120 | 1 | 3707693 | missense variant | C/T | snv | 2 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 57 |