Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80356898 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 9 | ||
rs118203998 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 8 | ||
rs55770810 | 0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 | 7 | ||
rs80358981 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 7 | |
rs587781803 | 0.851 | 0.200 | 13 | 32341169 | frameshift variant | AAGAG/- | delins | 5 | |||
rs80357669 | 0.851 | 0.200 | 17 | 43093074 | frameshift variant | G/- | delins | 5 | |||
rs80359477 | 0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins | 5 | |||
rs80357233 | 0.882 | 0.200 | 17 | 43093393 | stop gained | G/C;T | snv | 4.0E-06 | 4 | ||
rs80357438 | 0.851 | 0.200 | 17 | 43124032 | stop gained | A/G;T | snv | 4 | |||
rs80357828 | 0.882 | 0.200 | 17 | 43092155 | frameshift variant | GA/- | delins | 3 |