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: 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