RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
Disease: Omenn Syndrome ×
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: 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: rs121917895
rs121917895 		0.925 0.120 11 36594046 missense variant G/A;C snv 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 2 1998 2001
dbSNP: rs121917896
rs121917896 		1.000 0.120 11 36593315 missense variant A/C 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 2 1998 2001
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: rs199474691
rs199474691 		1.000 0.120 11 36575958 missense variant T/C;G 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: rs148508754
rs148508754 		0.882 0.120 11 36594065 missense variant C/A;G snv 4.0E-06; 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 4 2001 2012
dbSNP: rs36001797
rs36001797 		0.882 0.160 11 36593886 missense variant C/G;T snv 3.2E-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 4 2000 2015
dbSNP: rs1204766339
rs1204766339 		1.000 0.120 11 36592794 missense variant T/C;G 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 2 2012 2015
dbSNP: rs1564995627
rs1564995627 		1.000 0.120 11 36592812 missense variant 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 2 2000 2002
dbSNP: rs1564995611
rs1564995611 		1.000 0.120 11 36592803 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 1 2009 2009
dbSNP: rs1564997121
rs1564997121 		1.000 0.120 11 36593699 missense variant C/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 1 2011 2011
dbSNP: rs754413772
rs754413772 		1.000 0.120 11 36592849 missense variant T/G 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 1 2006 2006
dbSNP: rs762407838
rs762407838 		1.000 0.120 11 36593951 missense variant C/T snv 4.0E-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 1 2011 2011
dbSNP: rs773710101
rs773710101 		1.000 0.120 11 36592840 missense variant C/A;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 1 2011 2011
dbSNP: rs121917897
rs121917897 		0.882 0.120 11 36594054 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 0
dbSNP: rs193922463
rs193922463 		1.000 0.120 11 36576208 missense variant C/A;G 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 0
dbSNP: rs193922572
rs193922572 		1.000 0.120 11 36592922 missense variant C/A snv 4.4E-05 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 0
dbSNP: rs754502950
rs754502950 		0.851 0.200 11 36575652 stop gained C/G snv 1.2E-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 0.700 0
dbSNP: rs121917894
rs121917894 		0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.040 1.000 4 2007 2019
dbSNP: rs104894287
rs104894287 		0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2008 2008