Variant: rs121918572 

    present in Gene: RAG1;RAG2
    present in Chromosome: 11
    Position on Chromosome: 36575630
    Alleles of this Variant: C/T

rs121918572 in RAG1;RAG2 gene and Combined Cellular And Humoral Immune Defects With Granulomas PMID 18701881 2009 A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.

PMID 19458910 2009 Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

PMID 17572155 2007 GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

rs121918572 in RAG1;RAG2 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 18701881 2009 A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.

PMID 19458910 2009 Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

PMID 17572155 2007 GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.