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rs797045936

From SNPedia

ClinVar
Risk rs797045936(A;A)
Alt rs797045936(A;A)
Reference rs797045936(;)
Significance Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23904488dupT
CLNSRC
CLNACC RCV000194514.1,