Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922136
rs193922136
CD40LG
T 0.700 CausalMutation CLINVAR First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes. 24402618

2014
dbSNP: rs193922136
rs193922136
CD40LG
T 0.700 CausalMutation CLINVAR Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. 19575287

2009
dbSNP: rs193922136
rs193922136
CD40LG
T 0.700 CausalMutation CLINVAR "Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called ""milder"" mutants." 17351759

2007