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rs756302731

From SNPedia

ClinVar
Risk rs756302731(;)
Alt rs756302731(;)
Reference rs756302731(TC;TC)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88476853_88476854delTC
CLNSRC
CLNACC RCV000201538.1,