Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1397094538 | 0.925 | 0.120 | 1 | 23367044 | missense variant | A/T | snv | 4.0E-06 | 3 | ||
rs61748411 | 0.925 | 0.120 | X | 154031356 | missense variant | T/C | snv | 3 | |||
rs536551654 | 1.000 | 0.120 | 17 | 49511972 | missense variant | T/C | snv | 2 | |||
rs781049584 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 18 | |
rs80356702 | 0.882 | 0.120 | 7 | 143330868 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 9 | |
rs74315408 | 0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 | 16 | |
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
rs148881970 | 0.724 | 0.360 | 17 | 42543840 | missense variant | A/G | snv | 5.4E-05 | 1.3E-04 | 22 | |
rs768823392 | 0.827 | 0.120 | 16 | 89546657 | coding sequence variant | GGCGGGAGA/- | delins | 2.6E-04 | 4.2E-04 | 10 | |
rs17125721 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 14 | |
rs2732260 | 0.882 | 0.200 | 8 | 33431749 | intron variant | G/A | snv | 8.4E-02 | 5 | ||
rs1411832 | 1.000 | 0.040 | 10 | 106126497 | intergenic variant | C/T | snv | 0.10 | 2 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs8074995 | 0.925 | 0.040 | 17 | 66796013 | intron variant | G/A | snv | 0.13 | 5 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs12273363 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 11 | ||
rs7127507 | 0.827 | 0.080 | 11 | 27693337 | intron variant | T/C | snv | 0.34 | 6 | ||
rs744373 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 8 | ||
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs11142387 | 9 | 70383416 | downstream gene variant | A/C | snv | 0.49 | 7 | ||||
rs11136000 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 19 | ||
rs3851179 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 15 |