Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62637014
rs62637014
AIPL1
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs62637014
rs62637014
AIPL1
T 0.700 CausalMutation CLINVAR Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 10615133

2000