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rs863225204

From SNPedia

ClinVar
Risk rs863225204(C;C)
Alt rs863225204(C;C)
Reference rs863225204(;)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000017.10:g.56283704dupG
CLNSRC
CLNACC RCV000201584.1,