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rs771454167

From SNPedia

ClinVar
Risk rs771454167(;)
Alt rs771454167(;)
Reference rs771454167(C;C)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88456549delC
CLNSRC
CLNACC RCV000201679.1,