RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
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: rs121918571
rs121918571
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 24290284 2014
dbSNP: rs121918571
rs121918571
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome. 18056378 2007