Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569377829
rs1569377829
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1
A 0.700 GeneticVariation CLINVAR Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. 15924140 2005