rs150739647, RAG1;RAG2

N. diseases: 2
Disease: Severe Combined Immunodeficiency ×
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
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR Highly variable clinical phenotypes of hypomorphic RAG1 mutations. 20956421 2010
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
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.700 CausalMutation CLINVAR The genetic and biochemical basis of Omenn syndrome. 11213808 2000