CD3E, CD3e molecule, 916

N. diseases: 73; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201543770
rs201543770
Entrez Id: 916
Gene Symbol: CD3E
CD3E
CUI: C3810127
Disease:
IMMUNODEFICIENCY 18 		T 0.700 GeneticVariation CLINVAR Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
dbSNP: rs201543770
rs201543770
Entrez Id: 916
Gene Symbol: CD3E
CD3E
CUI: C3810127
Disease:
IMMUNODEFICIENCY 18 		T 0.700 GeneticVariation CLINVAR Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. 8490660 1993
dbSNP: rs121918659
rs121918659
Entrez Id: 916
Gene Symbol: CD3E
CD3E
CUI: C3810127
Disease:
IMMUNODEFICIENCY 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs483352928
rs483352928
Entrez Id: 916
Gene Symbol: CD3E
CD3E
CUI: C3810127
Disease:
IMMUNODEFICIENCY 18 		C 0.700 CausalMutation CLINVAR
dbSNP: rs483352929
rs483352929
Entrez Id: 916
Gene Symbol: CD3E
CD3E
CUI: C3810128
Disease:
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT 		A 0.700 CausalMutation CLINVAR