RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
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: 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