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rs794727952

From SNPedia

ClinVar
Risk rs794727952(;)
Alt rs794727952(;)
Reference rs794727952(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 1 Cone-rod dystrophy 6
Variation info
Gene GUCY2D
CLNDBN Leber congenital amaurosis 1 Cone-rod dystrophy 6
Reversed 0
HGVS NC_000017.10:g.7915485delC
CLNSRC
CLNACC RCV000180468.1, RCV000180469.1,