Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386834236 | 0.882 | 0.120 | 17 | 80104542 | intron variant | T/G | snv | 3.4E-03 | 3.8E-03 | 6 | |
rs1801175 | 0.807 | 0.240 | 17 | 42903947 | missense variant | C/T | snv | 5.7E-04 | 3.4E-04 | 4 | |
rs121965021 | 0.807 | 0.320 | 4 | 1003418 | missense variant | C/G;T | snv | 5.6E-05 | 4 | ||
rs80356491 | 0.925 | 0.080 | 11 | 119025271 | frameshift variant | AG/- | del | 1.7E-04 | 2.5E-04 | 3 | |
rs12118058 | 1.000 | 0.080 | 1 | 99916709 | stop gained | C/G;T | snv | 3.6E-05 | 1.0E-04 | 2 | |
rs1800312 | 0.925 | 0.120 | 17 | 80117016 | stop gained | G/A;C | snv | 8.0E-06; 3.1E-04 | 2 | ||
rs747610090 | 1.000 | 0.120 | 17 | 80108818 | missense variant | T/A | snv | 2.8E-05 | 2 | ||
rs121918419 | 1.000 | 0.120 | 12 | 21568952 | stop gained | G/A | snv | 3.8E-04 | 1.3E-04 | 2 | |
rs767095759 | 1.000 | 0.160 | 12 | 48145039 | frameshift variant | C/- | delins | 9.5E-05 | 4.9E-05 | 2 | |
rs104894571 | 0.925 | 0.080 | 17 | 42909353 | missense variant | T/C;G | snv | 1 | |||
rs80356482 | 0.851 | 0.160 | 17 | 42909418 | missense variant | G/A;C | snv | 1.6E-05; 5.2E-05 | 1 | ||
rs80356483 | 0.925 | 0.080 | 17 | 42911161 | missense variant | G/T | snv | 8.0E-06 | 2.1E-05 | 1 | |
rs193302887 | 1.000 | 0.080 | 11 | 119029300 | missense variant | A/G | snv | 1 |