Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121912874 | 0.716 | 0.400 | 12 | 47978329 | missense variant | G/A | snv | 14 | |||
rs121912865 | 1.000 | 0.080 | 12 | 47982886 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs121912893 | 0.708 | 0.400 | 12 | 47983721 | stop gained | G/A;T | snv | 15 | |||
rs794727261 | 0.716 | 0.400 | 12 | 47999953 | stop gained | G/T | snv | 14 |