Variant: rs397514671

present in Gene: STIM1 present in Chromosome: 11 Position on Chromosome: 4083309 Alleles of this Variant: C/T

rs397514671 in STIM1 gene and Immune dysfunction with T-cell inactivation due to calcium entry defect 2 PMID 22190180 2012 Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.

PMID 19420366 2009 STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.