Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751404
rs61751404
ABCA4
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 GeneticVariation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034

1998