RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
Disease: Primary immune deficiency disorder ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1204766339
rs1204766339
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		G 0.700 GeneticVariation CLINVAR Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. 26457731 2015
dbSNP: rs1204766339
rs1204766339
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		G 0.700 GeneticVariation CLINVAR A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. 22841008 2012
dbSNP: rs773710101
rs773710101
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		A 0.700 GeneticVariation CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011
dbSNP: rs1564995611
rs1564995611
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		T 0.700 GeneticVariation CLINVAR Omenn syndrome due to mutation of the RAG2 gene. 19470080 2009
dbSNP: rs754413772
rs754413772
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		G 0.700 GeneticVariation CLINVAR RAG-dependent primary immunodeficiencies. 16960852 2006
dbSNP: rs1564995627
rs1564995627
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		T 0.700 GeneticVariation CLINVAR The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins. 12200379 2002
dbSNP: rs1564995627
rs1564995627
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		T 0.700 GeneticVariation CLINVAR Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. 10891502 2000
dbSNP: rs1564995660
rs1564995660
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		C 0.700 GeneticVariation CLINVAR