Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514619
rs397514619
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3
CUI: C0796205
Disease:
SPINOCEREBELLAR ATAXIA, X-LINKED 1 		0.800 GeneticVariation UNIPROT Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. 22912398 2012
dbSNP: rs397514619
rs397514619
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3
CUI: C0796205
Disease:
SPINOCEREBELLAR ATAXIA, X-LINKED 1 		A 0.800 CausalMutation CLINVAR