Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201543770
rs201543770
CD3E
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
CD3E
T 0.700 GeneticVariation CLINVAR Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. 8490660

1993