Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553192432
rs1553192432
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		GC 0.700 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839

2013