Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs769526751 | 19 | 12885020 | stop gained | C/A;G;T | snv | 1.2E-05 | 2 | ||||
rs1131690802 | 1.000 | 0.160 | 6 | 44232906 | missense variant | A/C | snv | 2 | |||
rs765925019 | 2 | 219216027 | frameshift variant | GATCCGC/-;GATCCGCGATCCGC | delins | 3.0E-05 | 1 | ||||
rs879255549 | 2 | 219213503 | splice acceptor variant | C/T | snv | 1 | |||||
rs869312818 | 1 | 207322484 | missense variant | G/A | snv | 1 | |||||
rs879255550 | 1 | 25290757 | missense variant | G/A | snv | 1 |