RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
Disease: Combined Cellular And Humoral Immune Defects With Granulomas ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		G 0.700 CausalMutation CLINVAR A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 24290284 2014
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		G 0.700 CausalMutation CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		G 0.700 GeneticVariation CLINVAR