IL7R, interleukin 7 receptor, 3575

N. diseases: 231; N. variants: 41
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200803157
rs200803157
Entrez Id: 3575;105374724
Gene Symbol: IL7R;LOC105374724
IL7R;LOC105374724
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		A 0.700 GeneticVariation CLINVAR Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis. 26123418 2015
dbSNP: rs200803157
rs200803157
Entrez Id: 3575;105374724
Gene Symbol: IL7R;LOC105374724
IL7R;LOC105374724
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		A 0.700 GeneticVariation CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875 2011