Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80359180 | 0.827 | 0.280 | 13 | 32380085 | stop gained | C/A;G;T | snv | 6 | |||
rs80359200 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 12 | ||
rs80359604 | 0.763 | 0.320 | 13 | 32329468 | frameshift variant | GT/- | delins | 10 |