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rs863225222

From SNPedia

ClinVar
Risk rs863225222(G;G)
Alt rs863225222(G;G)
Reference rs863225222(;)
Significance Pathogenic
Disease Joubert syndrome Joubert syndrome 24
Variation info
Gene TCTN2
CLNDBN Joubert syndrome Joubert syndrome 24
Reversed 0
HGVS NC_000012.11:g.124155863dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000201539.1, RCV000202326.1,