RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
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: rs104894284
rs104894284 		1.000 0.120 11 36574986 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.810 0.857 7 1998 2011
dbSNP: rs104894289
rs104894289 		1.000 0.120 11 36574490 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 12 1998 2011
dbSNP: rs104894285
rs104894285 		0.882 0.120 11 36574985 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 6 1998 2011
dbSNP: rs104894286
rs104894286 		0.925 0.160 11 36575514 missense variant G/A snv 4.0E-05 2.1E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 6 1998 2011
dbSNP: rs104894290
rs104894290 		1.000 0.120 11 36576039 missense variant A/G snv
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 6 1998 2011
dbSNP: rs104894291
rs104894291 		0.882 0.160 11 36574491 missense variant G/A;T snv 1.6E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 6 1998 2011
dbSNP: rs104894292
rs104894292 		1.000 0.120 11 36574590 missense variant A/G;T snv
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 6 1998 2011
dbSNP: rs121918571
rs121918571 		0.882 0.160 11 36574287 missense variant G/A snv 7.0E-06
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 6 1998 2011
dbSNP: rs141524540
rs141524540 		0.851 0.200 11 36574607 missense variant A/G snv 2.8E-05 2.8E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 6 1998 2011
dbSNP: rs104894287
rs104894287 		0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		Infections; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2005 2005
dbSNP: rs104894288
rs104894288 		1.000 0.120 11 36576246 missense variant A/C snv
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		Infections; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2005 2005
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: rs773929270
rs773929270 		0.851 0.200 11 36573728 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.710 1.000 1 2015 2015
dbSNP: rs150739647
rs150739647 		0.925 0.120 11 36576228 missense variant G/A;C snv 4.4E-05; 4.0E-06
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 8 2000 2016
dbSNP: rs104894298
rs104894298 		0.925 0.160 11 36574823 missense variant C/T snv
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 6 1998 2011
dbSNP: rs150739647
rs150739647 		0.925 0.120 11 36576228 missense variant G/A;C snv 4.4E-05; 4.0E-06
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 6 1998 2011
dbSNP: rs199474676
rs199474676 		0.925 0.120 11 36575399 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 6 1998 2011
dbSNP: rs199474677
rs199474677 		1.000 0.120 11 36574665 missense variant T/A snv
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 6 1998 2011
dbSNP: rs199474679
rs199474679 		0.925 0.120 11 36574601 missense variant G/A;T snv
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 6 1998 2011
dbSNP: rs199474681
rs199474681 		0.925 0.120 11 36574981 missense variant G/C;T snv 4.0E-06
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 6 1998 2011
dbSNP: rs199474682
rs199474682 		1.000 0.120 11 36574505 missense variant T/C snv
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 6 1998 2011
dbSNP: rs199474684
rs199474684 		1.000 0.120 11 36574533 missense variant G/A snv 8.0E-06; 4.0E-06 7.0E-06
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 6 1998 2011
dbSNP: rs199474685
rs199474685 		0.925 0.120 11 36574635 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 6 1998 2011