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: rs199641706
rs199641706
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		A 0.700 CausalMutation CLINVAR A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. 27833609 2016
dbSNP: rs199641706
rs199641706
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		A 0.700 CausalMutation CLINVAR Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 9843216 1998