Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754768875
rs754768875
USH2A ; LOC102723833
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019