Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
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 | |||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
rs1805007 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 25 | ||
rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 23 | |||
rs879255280 | 0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv | 22 | |||
rs16891982 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 13 | ||
rs749140677 | 0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 | 13 | ||
rs2228479 | 0.763 | 0.280 | 16 | 89919532 | missense variant | G/A;C | snv | 7.8E-02; 4.0E-06 | 11 | ||
rs2293152 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 10 | ||
rs80359601 | 0.807 | 0.360 | 13 | 32340890 | frameshift variant | -/A;NNNNNNNN | ins | 4.1E-06 | 8 | ||
rs1036980234 | 0.827 | 0.160 | 9 | 95447156 | missense variant | G/A | snv | 6 | |||
rs357564 | 0.827 | 0.160 | 9 | 95447312 | missense variant | G/A;C;T | snv | 0.39; 1.2E-05; 4.1E-06 | 6 | ||
rs869025212 | 0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins | 6 | |||
rs1356844630 | 0.925 | 0.160 | 12 | 57470802 | stop gained | C/T | snv | 4.0E-06 | 5 | ||
rs775248597 | 0.851 | 0.120 | 11 | 108229185 | stop gained | C/G;T | snv | 8.1E-06 | 5 | ||
rs104894040 | 0.882 | 0.160 | 7 | 155806509 | missense variant | A/C;G | snv | 4 | |||
rs121918347 | 0.851 | 0.080 | 7 | 129210500 | missense variant | G/T | snv | 4 |