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: rs104894291
rs104894291
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: rs104894291
rs104894291
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011
dbSNP: rs104894291
rs104894291
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report. 19830075 2009
dbSNP: rs104894291
rs104894291
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. 17075247 2006
dbSNP: rs104894291
rs104894291
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Partial V(D)J recombination activity leads to Omenn syndrome. 9630231 1998