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rs794729650

From SNPedia

ClinVar
Risk rs794729650(;)
Alt rs794729650(;)
Reference rs794729650(TCCA;TCCA)
Significance Probable-Pathogenic
Disease Leber congenital amaurosis 13
Variation info
Gene RDH12
CLNDBN Leber congenital amaurosis 13
Reversed 0
HGVS NC_000014.8:g.68189422_68189425delCATC
CLNSRC
CLNACC RCV000185560.2,