MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35689081
rs35689081
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0035334
Disease:
Retinitis Pigmentosa
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019