Variant: rs118203993 

    present in Gene: ORAI1
    present in Chromosome: 12
    Position on Chromosome: 121627018
    Alleles of this Variant: C/T

rs118203993 in ORAI1 gene and Immune dysfunction with T-cell inactivation due to calcium entry defect 1 PMID 16147976 2005 A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients.

PMID 16582901 2006 A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.