RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894290
rs104894290
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2700553
Disease:
Omenn Syndrome 		0.800 GeneticVariation UNIPROT Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
dbSNP: rs104894290
rs104894290
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2700553
Disease:
Omenn Syndrome 		0.800 GeneticVariation UNIPROT Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. 21771083 2011
dbSNP: rs104894290
rs104894290
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2700553
Disease:
Omenn Syndrome 		0.800 GeneticVariation UNIPROT Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. 19912631 2009
dbSNP: rs121918569
rs121918569
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		0.800 GeneticVariation UNIPROT An immunodeficiency disease with RAG mutations and granulomas. 18463379 2008
dbSNP: rs121918574
rs121918574
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		0.800 GeneticVariation UNIPROT An immunodeficiency disease with RAG mutations and granulomas. 18463379 2008
dbSNP: rs121918575
rs121918575
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		0.800 GeneticVariation UNIPROT An immunodeficiency disease with RAG mutations and granulomas. 18463379 2008
dbSNP: rs104894287
rs104894287
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C1835931
Disease:
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		0.800 GeneticVariation UNIPROT A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. 16276422 2005
dbSNP: rs104894288
rs104894288
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C1835931
Disease:
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		0.800 GeneticVariation UNIPROT A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. 16276422 2005
dbSNP: rs104894290
rs104894290
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2700553
Disease:
Omenn Syndrome 		0.800 GeneticVariation UNIPROT V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001
dbSNP: rs121917895
rs121917895
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2700553
Disease:
Omenn Syndrome 		C 0.800 GeneticVariation CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001
dbSNP: rs121917896
rs121917896
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2700553
Disease:
Omenn Syndrome 		C 0.800 GeneticVariation CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001
dbSNP: rs104894290
rs104894290
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2700553
Disease:
Omenn Syndrome 		0.800 GeneticVariation UNIPROT Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. 10606976 2000
dbSNP: rs104894290
rs104894290
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2700553
Disease:
Omenn Syndrome 		0.800 GeneticVariation UNIPROT Partial V(D)J recombination activity leads to Omenn syndrome. 9630231 1998
dbSNP: rs121917895
rs121917895
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2700553
Disease:
Omenn Syndrome 		0.800 GeneticVariation UNIPROT Partial V(D)J recombination activity leads to Omenn syndrome. 9630231 1998
dbSNP: rs121917896
rs121917896
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2700553
Disease:
Omenn Syndrome 		0.800 GeneticVariation UNIPROT Partial V(D)J recombination activity leads to Omenn syndrome. 9630231 1998
dbSNP: rs104894287
rs104894287
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C1835931
Disease:
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894288
rs104894288
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C1835931
Disease:
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894290
rs104894290
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2700553
Disease:
Omenn Syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121917895
rs121917895
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2700553
Disease:
Omenn Syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121917896
rs121917896
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2700553
Disease:
Omenn Syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121918569
rs121918569
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918574
rs121918574
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918575
rs121918575
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		G 0.800 CausalMutation CLINVAR
dbSNP: rs150739647
rs150739647
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		A 0.700 CausalMutation CLINVAR Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. 27484032 2016
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency. 26692406 2016