MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8, C3553813
Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs387907300 | 1.000 | 3 | 43080959 | missense variant | C/T | snv | 1.2E-05 | 3 | |||
| rs587777798 | 0.925 | 7 | 16258393 | inframe insertion | ACA/-;ACAACA | delins | 4.2E-05 | 2 | |||
| rs374042455 | 0.925 | 3 | 43080674 | missense variant | G/A | snv | 1.6E-05 | 2 | |||
| rs1553618354 | 1.000 | 3 | 43080687 | stop gained | G/A | snv | 1 | ||||
| rs387907299 | 1.000 | 3 | 43080099 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 1 |