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rs769761100

From SNPedia

ClinVar
Risk rs769761100(T;T)
Alt rs769761100(T;T)
Reference rs769761100(;)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88512305dupT
CLNSRC
CLNACC RCV000201724.1,