ICOS, inducible T cell costimulator, 29851

N. diseases: 193; N. variants: 9
Disease: Common Variable Immunodeficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746054383
rs746054383
Entrez Id: 29851
Gene Symbol: ICOS
ICOS
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.010 GeneticVariation BEFREE We investigated a family with CVID and identified the heterozygous C104R TNFRSF13B mutation in two of the three index-children with CVID, a mother with selective immunoglobulin A deficiency, a mother with recurrent infections and a healthy grandfather. 19210517 2009