Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 35 | ||
rs121909219 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 24 | |||
rs121909229 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 23 | |||
rs121909218 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 14 | |||
rs121913289 | 1.000 | 0.080 | 10 | 87958013 | frameshift variant | A/- | delins | 4 | |||
rs1057519724 | 1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv | 3 | |||
rs121913292 | 1.000 | 0.080 | 10 | 87933148 | frameshift variant | G/- | del | 1 | |||
rs1554897879 | 10 | 87931085 | stop gained | C/A | snv | 1 |