IL7R, interleukin 7 receptor, 3575

N. diseases: 231; N. variants: 41
Disease: Severe Combined Immunodeficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561424886
rs1561424886
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs193922640
rs193922640
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		GATATATTTCA 0.700 GeneticVariation CLINVAR
dbSNP: rs193922641
rs193922641
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs193922642
rs193922642
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs193922643
rs193922643
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		TA 0.700 GeneticVariation CLINVAR
dbSNP: rs193922645
rs193922645
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs193922647
rs193922647
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs104893894
rs104893894
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		0.010 GeneticVariation BEFREE A P132S mutation in the IL-7R alpha was identified in 3 patients with severe combined immunodeficiency (SCID) within an extensively consanguineous family. 11023514 2000