Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148508754
rs148508754
RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes. 23243423

2012
dbSNP: rs148508754
rs148508754
RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR RAG-dependent primary immunodeficiencies. 16960852

2006
dbSNP: rs148508754
rs148508754
RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. 15025726

2004
dbSNP: rs148508754
rs148508754
RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. 11313270

2001