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rs863223316

From SNPedia

ClinVar
Risk rs863223316(T;T)
Alt rs863223316(T;T)
Reference rs863223316(;)
Significance Pathogenic
Disease Congenital cataracts
Variation info
Gene SLC33A1
CLNDBN Congenital cataracts, hearing loss, and neurodegeneration
Reversed 1
HGVS NC_000003.11:g.155571173dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023326.4,