Disease: Severe Combined Immunodeficiency ×
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: rs1384988139
rs1384988139 		1.000 0.120 3 50330655 missense variant G/A;C snv
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs750917798
rs750917798 		1.000 0.120 3 50331718 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs898332991
rs898332991 		1.000 0.120 3 50331652 missense variant G/A snv 4.0E-06 4.2E-05
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 < 0.001 1 2004 2004