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rs863225209

From SNPedia

ClinVar
Risk rs863225209(C;C)
Alt rs863225209(C;C)
Reference rs863225209(;)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000017.10:g.56290433_56290434insG
CLNSRC
CLNACC RCV000201675.1,