RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
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: rs121918568
rs121918568 		1.000 0.160 11 36574244 missense variant C/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: 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: 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: rs104894291
rs104894291 		0.882 0.160 11 36574491 missense variant G/A;T snv 1.6E-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 5 1998 2014
dbSNP: rs193922461
rs193922461 		0.882 0.160 11 36574870 missense variant G/T snv 1.1E-04 8.4E-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 5 2000 2015
dbSNP: rs199474686
rs199474686 		0.882 0.160 11 36574725 missense variant G/A snv 6.4E-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 4 2001 2009
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: rs121918571
rs121918571 		0.882 0.160 11 36574287 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 0.700 1.000 2 2007 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: rs104894286
rs104894286 		0.925 0.160 11 36575514 missense variant G/A snv 4.0E-05 2.1E-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 1 2008 2008
dbSNP: rs104894298
rs104894298 		0.925 0.160 11 36574823 missense variant C/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 0.700 1.000 1 2008 2008
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
dbSNP: rs141524540
rs141524540 		0.851 0.200 11 36574607 missense variant A/G snv 2.8E-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 0
dbSNP: rs193922464
rs193922464 		0.882 0.160 11 36573626 stop gained C/G;T snv 4.0E-06; 2.0E-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 0
dbSNP: rs773929270
rs773929270 		0.851 0.200 11 36573728 stop gained C/T snv 4.0E-06 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 0