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: rs1569376930
rs1569376930
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		G 0.700 GeneticVariation CLINVAR c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis. 25541662 2014
dbSNP: rs104894774
rs104894774
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		G 0.800 GeneticVariation CLINVAR CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers. 7916370 1994
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs104894771
rs104894771
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs104894774
rs104894774
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs104894777
rs104894777
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs104894778
rs104894778
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs1057521127
rs1057521127
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs1477466218
rs1477466218
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs756468554
rs756468554
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs886039326
rs886039326
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs104894771
rs104894771
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs104894774
rs104894774
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs104894777
rs104894777
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs104894778
rs104894778
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs104894778
rs104894778
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		A 0.800 CausalMutation CLINVAR CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs1057521127
rs1057521127
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs1477466218
rs1477466218
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs756468554
rs756468554
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs886039326
rs886039326
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993