Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236030
rs527236030
STIM1
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		T 0.700 CausalMutation CLINVAR York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. 25577287

2015
dbSNP: rs527236030
rs527236030
STIM1
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		T 0.700 CausalMutation CLINVAR Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 24570283

2014