MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, C3150413
Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 37 | ||
| rs104894681 | 0.776 | 0.200 | 19 | 46756793 | missense variant | C/T | snv | 9.0E-06 | 10 | ||
| rs543163491 | 0.827 | 0.160 | 19 | 46755995 | missense variant | A/G;T | snv | 8.2E-05; 6.8E-06 | 6 | ||
| rs104894692 | 0.882 | 0.160 | 19 | 46756369 | missense variant | T/A | snv | 6.3E-06 | 1.4E-05 | 3 | |
| rs104894684 | 1.000 | 19 | 46756403 | missense variant | G/A | snv | 1 | ||||
| rs587777223 | 1.000 | 19 | 46755451 | start lost | A/G | snv | 1 | ||||
| rs886041004 | 1.000 | 19 | 46755851 | frameshift variant | GG/- | delins | 1 |