CD40LG, CD40 ligand, 959

N. diseases: 453; N. variants: 25
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		C 0.810 CausalMutation CLINVAR
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894771
rs104894771
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894774
rs104894774
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894777
rs104894777
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs193922135
rs193922135
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		T 0.710 CausalMutation CLINVAR
dbSNP: rs104894775
rs104894775
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569376925
rs1569376925
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs193922134
rs193922134
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		T 0.820 CausalMutation CLINVAR "Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called ""milder"" mutants." 17351759 2007
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0272236
Disease:
Hyperimmunoglobulin M syndrome 		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
dbSNP: rs1126535
rs1126535
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0024530
Disease:
Malaria 		0.010 GeneticVariation BEFREE A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs1805015), NOS (rs8078340), CD40LG (rs1126535), and LUC7L (rs1211375) was significantly associated with the prevalence of malaria (POR: 1.822, 95% CI: 0.998-3.324). 26448013 2015
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs104894771
rs104894771
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs104894774
rs104894774
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs104894777
rs104894777
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs104894778
rs104894778
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs1057521127
rs1057521127
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs1477466218
rs1477466218
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs756468554
rs756468554
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs886039326
rs886039326
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		A 0.820 GeneticVariation CLINVAR c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis. 25541662 2014
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		T 0.820 CausalMutation CLINVAR c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis. 25541662 2014