Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs28940580 | 0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 | 17 | ||
rs33389 | 0.882 | 0.280 | 5 | 143320934 | intron variant | C/G;T | snv | 4 | |||
rs139994842 | 0.925 | 0.040 | 9 | 136508308 | missense variant | G/A;C | snv | 1.5E-03 | 3 | ||
rs1437439236 | 0.925 | 0.080 | 10 | 70871945 | missense variant | C/T | snv | 8.0E-06 | 3 | ||
rs267606954 | 1.000 | 0.080 | 10 | 94032007 | stop gained | C/T | snv | 2.4E-05 | 3 | ||
rs1569504068 | 1.000 | X | 108655388 | frameshift variant | G/- | del | 2 | ||||
rs267606919 | 1.000 | 0.080 | 19 | 35831056 | stop gained | G/A | snv | 9.9E-05 | 2 | ||
rs397514479 | 1.000 | 14 | 73961339 | missense variant | C/A | snv | 2 | ||||
rs437168 | 1.000 | 0.080 | 19 | 35843517 | synonymous variant | G/A;C | snv | 7.9E-02; 1.2E-05 | 2 | ||
rs201899638 | 9 | 9932324 | intron variant | T/C;G | snv | 1 | |||||
rs4642516 | 6 | 32689766 | TF binding site variant | G/A;T | snv | 1 | |||||
rs9273542 | 6 | 32661035 | intron variant | C/A;T | snv | 1 | |||||
rs9348883 | 6 | 32390772 | non coding transcript exon variant | T/A;G | snv | 1 | |||||
rs869025224 | 0.827 | 0.240 | 2 | 97734709 | missense variant | G/C | snv | 7.0E-06 | 7 | ||
rs199840952 | 0.827 | 0.240 | 2 | 97732893 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 7 | |
rs74315343 | 0.851 | 0.080 | 1 | 179561328 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 5 | |
rs121912491 | 0.882 | 0.240 | 3 | 49131128 | missense variant | C/T | snv | 7.0E-06 | 4 | ||
rs552953108 | 0.724 | 0.200 | 11 | 46729529 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 16 | |
rs28940578 | 0.716 | 0.400 | 16 | 3243405 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 | 16 | |
rs119473033 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 11 | |
rs61747728 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 20 |