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rs863225136

From SNPedia

ClinVar
Risk rs863225136(GT;GT)
Alt rs863225136(GT;GT)
Reference rs863225136(;)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135754332_135754333dupAC
CLNSRC
CLNACC RCV000201656.1,