Variant: rs104893894 

    present in Gene: IL7R
    present in Chromosome: 5
    Position on Chromosome: 35871070
    Alleles of this Variant: C/T

rs104893894 in IL7R gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive PMID 11023514 2000 A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency.

PMID 9843216 1998 Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.