Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs148894066 | 6 | 7579697 | stop gained | C/A;T | snv | 1.4E-04 | 1 | ||||
rs150974575 | 1.000 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 | 3 | ||
rs1553265736 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 4 | |||
rs1553479603 | 2 | 178528524 | splice donor variant | ACTGGCAGGTTGTTTTTAAACCATTCGATT/- | delins | 1 | |||||
rs1553577362 | 2 | 178564611 | frameshift variant | G/- | delins | 1 | |||||
rs1553603152 | 1.000 | 0.040 | 2 | 178570586 | stop gained | G/T | snv | 2 | |||
rs1553603456 | 2 | 178570689 | frameshift variant | C/- | delins | 1 | |||||
rs1553607425 | 2 | 178572745 | frameshift variant | C/- | delins | 1 | |||||
rs1553691320 | 2 | 178609440 | frameshift variant | T/- | del | 1 | |||||
rs1553707780 | 0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del | 4 | |||
rs1553741321 | 2 | 178633304 | frameshift variant | -/T | delins | 1 | |||||
rs1553742630 | 1.000 | 0.080 | 2 | 178633900 | frameshift variant | -/C | ins | 2 | |||
rs1553974835 | 1.000 | 0.040 | 4 | 173529091 | stop gained | C/A | snv | 2 | |||
rs1554093433 | 0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv | 4 | |||
rs1554105614 | 1.000 | 0.080 | 6 | 7555773 | stop gained | C/T | snv | 2 | |||
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 | |||
rs1554108287 | 0.925 | 0.080 | 6 | 7580495 | frameshift variant | CACTG/- | del | 3 | |||
rs1554108431 | 0.882 | 0.120 | 6 | 7581189 | stop gained | C/T | snv | 4 | |||
rs1554875409 | 10 | 119651752 | stop gained | G/A | snv | 1 | |||||
rs1555338080 | 14 | 23427274 | missense variant | C/G | snv | 1 | |||||
rs1557194525 | 1.000 | 0.120 | X | 154420961 | frameshift variant | C/- | del | 3 | |||
rs1557315928 | X | 32380517 | stop gained | C/T | snv | 4 | |||||
rs1559415567 | 0.925 | 0.160 | 2 | 178572564 | frameshift variant | G/- | delins | 3 | |||
rs1559877046 | 2 | 178621183 | stop gained | T/A;C | snv | 1 |