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rs797044608

From SNPedia

ClinVar
Risk rs797044608(CA;CA)
Alt rs797044608(CA;CA)
Reference rs797044608(;)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23909166_23909167dupTG
CLNSRC
CLNACC RCV000194102.1,