RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
Disease: Combined Cellular And Humoral Immune Defects With Granulomas ×
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: rs121918569
rs121918569 		1.000 0.160 11 36575637 missense variant G/A snv 7.0E-06
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2008 2008
dbSNP: rs121918574
rs121918574 		1.000 0.160 11 36593939 missense variant G/T snv
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2008 2008
dbSNP: rs121918575
rs121918575 		1.000 0.160 11 36592817 missense variant C/G snv 3.6E-05 4.2E-05
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2008 2008
dbSNP: rs748727021
rs748727021 		0.925 0.160 11 36593574 stop gained C/A snv 1.2E-05 7.0E-06
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2001 2016
dbSNP: rs36001797
rs36001797 		0.882 0.160 11 36593886 missense variant C/G;T snv 3.2E-05
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2000 2015
dbSNP: rs121918572
rs121918572 		0.851 0.160 11 36575630 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2007 2009
dbSNP: rs539590514
rs539590514 		0.925 0.160 11 36576278 missense variant A/G snv 4.0E-06 9.1E-05
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2001 2014
dbSNP: rs754502950
rs754502950 		0.851 0.200 11 36575652 stop gained C/G snv 1.2E-05 2.8E-05
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2001 2014
dbSNP: rs121918570
rs121918570 		1.000 0.160 11 36576227 missense variant C/T snv 1.2E-05
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2008 2008