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: rs397514671
rs397514671 		0.925 0.120 11 4083309 missense variant C/T snv 4.0E-06
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 0.800 1.000 2 2009 2012
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
dbSNP: rs527236030
rs527236030 		0.851 0.400 11 4023945 missense variant A/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 2 2014 2015
dbSNP: rs1057519505
rs1057519505 		1.000 0.120 11 4083300 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 0
dbSNP: rs1057519506
rs1057519506 		1.000 0.120 11 3967633 missense variant T/C 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 0
dbSNP: rs1565171115
rs1565171115 		0.882 0.400 11 4083475 frameshift variant T/- delins
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 0
dbSNP: rs397514677
rs397514677 		0.851 0.400 11 4023928 missense variant A/G 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 0
dbSNP: rs397515357
rs397515357 		1.000 0.120 11 4023982 frameshift variant -/A delins
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 0
dbSNP: rs397515390
rs397515390 		1.000 0.120 11 4082183 splice acceptor variant G/A 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 0