Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs754012367 | 1.000 | 0.080 | 5 | 149866193 | frameshift variant | GTCA/- | delins | 2.4E-05 | 3.5E-05 | 1 | |
rs753942596 | 1.000 | 0.080 | 5 | 149884549 | stop gained | G/A | snv | 2.8E-05 | 7.0E-06 | 1 | |
rs121918576 | 0.925 | 0.080 | 5 | 149886354 | stop gained | G/C | snv | 7.0E-06 | 2 | ||
rs139444207 | 0.925 | 0.080 | 5 | 149895206 | missense variant | G/T | snv | 1.2E-04 | 1.5E-04 | 1 | |
rs144484128 | 1.000 | 0.080 | 5 | 149895281 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs146591309 | 1.000 | 0.080 | 5 | 149931117 | stop gained | G/A | snv | 3.6E-05 | 4.9E-05 | 1 | |
rs141252097 | 0.925 | 0.080 | 5 | 149944370 | missense variant | G/A;T | snv | 2.4E-05; 1.7E-04 | 1 |