Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113331868 | 5 | 150228191 | splice donor variant | C/A;T | snv | 6 | |||||
rs1554385305 | 0.925 | 0.040 | 7 | 44241784 | splice acceptor variant | C/T | snv | 7 | |||
rs1554402092 | 1.000 | 7 | 44254555 | missense variant | C/T | snv | 8 | ||||
rs1554386687 | 0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv | 12 | |||
rs1554389088 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 27 |