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rs797044640

From SNPedia

ClinVar
Risk rs797044640(T;T)
Alt rs797044640(T;T)
Reference rs797044640(;)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37226878dupA
CLNSRC
CLNACC RCV000174405.1,