Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ×
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: rs118203993
rs118203993 		0.925 0.120 12 121627018 missense variant C/T snv
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 2 2005 2006
dbSNP: rs1555322558
rs1555322558 		1.000 0.120 12 121626888 frameshift variant -/CCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC ins
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs782753385
rs782753385 		1.000 0.120 12 121641318 missense variant T/C snv 3.2E-05 3.5E-05
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs786205890
rs786205890 		1.000 0.120 12 121641045 missense variant C/A snv
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs878853261
rs878853261 		1.000 0.120 12 121627005 frameshift variant -/A delins
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0