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: rs104893894
rs104893894
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		0.800 GeneticVariation UNIPROT A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. 11023514 2000
dbSNP: rs104893894
rs104893894
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		0.800 GeneticVariation UNIPROT Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 9843216 1998
dbSNP: rs104893894
rs104893894
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		T 0.800 CausalMutation CLINVAR