Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894324
rs104894324
AICDA
0.010 GeneticVariation BEFREE Herein, we describe three Turkish siblings with HIGM syndrome who had a homozygous missense mutation (c.70C>T, p.Arg24Trp) in the activation-induced cytidine deaminase gene which results in autosomal recessive HIGM syndrome. 26551569

2015
dbSNP: rs148594123
rs148594123
CD40LG
0.010 GeneticVariation BEFREE The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from a X-linked hyper IgM syndrome kindred. 22750225

2012
dbSNP: rs1085307733
rs1085307733
CD40LG
0.010 GeneticVariation BEFREE Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis. 11038461

2000
dbSNP: rs1057521127
rs1057521127
CD40LG
0.700 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973

2019
dbSNP: rs1477466218
rs1477466218
CD40LG
0.700 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973

2019
dbSNP: rs756468554
rs756468554
CD40LG
0.700 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973

2019
dbSNP: rs886039326
rs886039326
CD40LG
0.700 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973

2019
dbSNP: rs1387503550
rs1387503550
CD40LG
C 0.700 CausalMutation CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208

2018
dbSNP: rs1057521127
rs1057521127
CD40LG
0.700 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377

2016
dbSNP: rs1477466218
rs1477466218
CD40LG
0.700 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377

2016
dbSNP: rs756468554
rs756468554
CD40LG
0.700 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377

2016
dbSNP: rs886039326
rs886039326
CD40LG
0.700 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377

2016
dbSNP: rs1569376930
rs1569376930
CD40LG
G 0.700 GeneticVariation CLINVAR c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis. 25541662

2014
dbSNP: rs1569376930
rs1569376930
CD40LG
G 0.700 GeneticVariation CLINVAR Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature. 22678466

2012
dbSNP: rs1569376930
rs1569376930
CD40LG
G 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China. 20591076

2010
dbSNP: rs1569376229
rs1569376229
CD40LG
A 0.700 GeneticVariation CLINVAR Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. 15358621

2005
dbSNP: rs1569377829
rs1569377829
CD40LG
A 0.700 GeneticVariation CLINVAR Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. 15924140

2005
dbSNP: rs1569376930
rs1569376930
CD40LG
G 0.700 GeneticVariation CLINVAR The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship. 10484640

1999
dbSNP: rs1057521127
rs1057521127
CD40LG
0.700 GeneticVariation UNIPROT Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. 9746782

1998
dbSNP: rs1477466218
rs1477466218
CD40LG
0.700 GeneticVariation UNIPROT Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. 9746782

1998
dbSNP: rs756468554
rs756468554
CD40LG
0.700 GeneticVariation UNIPROT Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. 9746782

1998
dbSNP: rs886039326
rs886039326
CD40LG
0.700 GeneticVariation UNIPROT Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. 9746782

1998
dbSNP: rs1057521127
rs1057521127
CD40LG
0.700 GeneticVariation UNIPROT Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. 9150729

1997
dbSNP: rs1477466218
rs1477466218
CD40LG
0.700 GeneticVariation UNIPROT Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. 9150729

1997
dbSNP: rs756468554
rs756468554
CD40LG
0.700 GeneticVariation UNIPROT Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. 9150729

1997