Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564995627
rs1564995627
RAG1 ; RAG2 ; IFTAP
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
RAG1 ; RAG2 ; IFTAP
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