Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs202247795 | 1.000 | 0.040 | 2 | 211702102 | missense variant | C/T | snv | 1 | |||
rs267599192 | 1.000 | 0.040 | 2 | 211673250 | missense variant | G/A | snv | 1 | |||
rs267599193 | 1.000 | 0.040 | 2 | 211713583 | missense variant | C/T | snv | 1 | |||
rs535202189 | 1.000 | 0.040 | 2 | 211673256 | missense variant | C/T | snv | 6.8E-05 | 1 | ||
rs55671017 | 1.000 | 0.040 | 2 | 211705339 | missense variant | G/A;T | snv | 8.0E-06; 6.4E-04 | 1 | ||
rs776347334 | 1.000 | 0.040 | 2 | 211430974 | missense variant | C/T | snv | 1.2E-05 | 1 |