STIM1, stromal interaction molecule 1, 6786

N. diseases: 247; N. variants: 23
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs483352867
rs483352867 		0.827 0.400 11 4074620 missense variant C/T snv
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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 6 2014 2017