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: 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