Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs59270054 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 6 | |||
rs61195471 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 6 | |||
rs74315379 | 0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 | 6 | ||
rs760187215 | 1.000 | 0.040 | 14 | 23431859 | missense variant | C/T | snv | 8.0E-06 | 6 | ||
rs104893823 | 0.882 | 0.040 | 3 | 52451285 | missense variant | C/T | snv | 5 | |||
rs104894501 | 0.851 | 0.040 | 15 | 63044030 | stop gained | G/A;C;T | snv | 4.0E-06 | 5 | ||
rs28933093 | 0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv | 5 | |||
rs397517689 | 0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 | 5 | ||
rs4947296 | 0.851 | 0.440 | 6 | 31090401 | intergenic variant | T/A;C | snv | 5 | |||
rs606231324 | 0.851 | 0.080 | 14 | 23428505 | missense variant | C/G;T | snv | 5 | |||
rs61444459 | 0.851 | 0.160 | 1 | 156137667 | missense variant | G/A;C | snv | 5 | |||
rs727503204 | 0.882 | 0.080 | 11 | 47343020 | splice donor variant | C/G;T | snv | 5 | |||
rs727503512 | 0.851 | 0.080 | 1 | 201363349 | missense variant | G/A;C;T | snv | 4.0E-06 | 5 | ||
rs74315380 | 0.851 | 0.080 | 1 | 201364366 | missense variant | G/A;C | snv | 5 | |||
rs104894505 | 0.882 | 0.040 | 15 | 63044072 | missense variant | G/A | snv | 4 | |||
rs111033559 | 0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv | 4 | |||
rs1114167453 | 1.000 | 19 | 45385569 | stop gained | G/C | snv | 4 | ||||
rs121913647 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 4 | ||
rs1553265736 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 4 | |||
rs1553707780 | 0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del | 4 | |||
rs1554093433 | 0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv | 4 | |||
rs1554108012 | 0.882 | 0.120 | 6 | 7579323 | stop gained | C/T | snv | 4 | |||
rs1554108152 | 0.882 | 0.120 | 6 | 7579922 | frameshift variant | -/AAATCGA | delins | 4 | |||
rs1554108431 | 0.882 | 0.120 | 6 | 7581189 | stop gained | C/T | snv | 4 | |||
rs1557315928 | X | 32380517 | stop gained | C/T | snv | 4 |