Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199473153 | 0.882 | 0.120 | 3 | 38597737 | stop gained | C/A;T | snv | 4.0E-06 | 1 | ||
rs45546039 | 0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 | 10 | ||
rs137854618 | 0.742 | 0.120 | 3 | 38566426 | missense variant | C/A;T | snv | 8.0E-06 | 5 | ||
rs199473161 | 1.000 | 0.080 | 3 | 38586038 | missense variant | G/A;T | snv | 2 | |||
rs727504801 | 0.925 | 0.080 | 3 | 38560397 | frameshift variant | G/- | delins | 3 |