Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781781440
rs781781440
CDHR1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		CA 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019