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rs863224918

From SNPedia

ClinVar
Risk rs863224918(AT;AT)
Alt rs863224918(AT;AT)
Reference rs863224918(TTG;TTG)
Significance Probable-Pathogenic
Disease Spinocerebellar ataxia autosomal recessive 1
Variation info
Gene SETX
CLNDBN Spinocerebellar ataxia autosomal recessive 1
Reversed 1
HGVS NC_000009.11:g.135147145_135147147delCAAinsAT
CLNSRC
CLNACC RCV000200211.1,