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: rs121918572
rs121918572
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		0.010 GeneticVariation BEFREE Our results indicate that the novel R776W missense mutation in RAG-1 is causal in the T(-)B(-)NK(+) SCID phenotype in Athabascan-speaking Dine Indians from the Canadian Northwest Territories. 18701881 2009