rs150739647, RAG1;RAG2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. 27484032 2016
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt. 25869295 2015
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.700 GeneticVariation UNIPROT Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. 21771083 2011
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.700 GeneticVariation UNIPROT Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR Highly variable clinical phenotypes of hypomorphic RAG1 mutations. 20956421 2010
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.700 GeneticVariation UNIPROT Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. 19912631 2009
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR An immunodeficiency disease with RAG mutations and granulomas. 18463379 2008
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. 18768869 2008
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. 17572155 2007
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase. 11971977 2002
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.700 GeneticVariation UNIPROT V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR The genetic and biochemical basis of Omenn syndrome. 11213808 2000
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.700 GeneticVariation UNIPROT Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. 10606976 2000
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.700 GeneticVariation UNIPROT Partial V(D)J recombination activity leads to Omenn syndrome. 9630231 1998