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rs863225157

From SNPedia

ClinVar
Risk rs863225157(;)
Alt rs863225157(;)
Reference rs863225157(AT;AT)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37198839_37198840delAT
CLNSRC
CLNACC RCV000201678.1,