Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1204766339
rs1204766339
RAG1 ; RAG2 ; IFTAP
G 0.700 GeneticVariation CLINVAR Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. 26457731

2015
dbSNP: rs1204766339
rs1204766339
RAG1 ; RAG2 ; IFTAP
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