Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039392
rs886039392
ITPR1
T 0.700 GeneticVariation CLINVAR Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. 27062503

2017
dbSNP: rs886039392
rs886039392
ITPR1
T 0.700 CausalMutation CLINVAR