Variant: rs121917895 

    present in Gene: RAG2;IFTAP
    present in Chromosome: 11
    Position on Chromosome: 36594046
    Alleles of this Variant: G/A;C

rs121917895 in RAG2;IFTAP gene and Omenn Syndrome PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

rs121917895 in RAG2;IFTAP gene and Primary immune deficiency disorder PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

rs121917895 in RAG2;IFTAP gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.