RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
Disease: Severe Combined Immunodeficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894287
rs104894287
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		0.010 GeneticVariation BEFREE These presentations are consistent with atypical severe combined immunodeficiency (SCID)/Omenn Syndrome and the diagnosis was confirmed by demonstration of homozygosity for the R841W mutation in the catalytic core of RAG1. 18592361 2008