Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs111033560 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 7 | ||
rs397516784 | 0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 | 4 | ||
rs111033559 | 0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv | 3 |