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rs534542684

From SNPedia

ClinVar
Risk rs534542684(;)
Alt rs534542684(;)
Reference rs534542684(G;G)
Significance Pathogenic
Disease Joubert syndrome 23
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23
Reversed 0
HGVS NC_000014.8:g.58899157delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000186590.4,