Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4273077
rs4273077
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0026764
Disease:
Multiple Myeloma 		0.810 GeneticVariation BEFREE Common single-nucleotide polymorphisms (SNPs) at 2p23.3 (rs6746082), 3p22.1 (rs1052501), 3q26.2 (rs10936599), 6p21.33 (rs2285803), 7p15.3 (rs4487645), 17p11.2 (rs4273077), and 22q13.1 (rs877529) have recently been shown to influence MM risk. 24449210 2014
dbSNP: rs4273077
rs4273077
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0026764
Disease:
Multiple Myeloma 		G 0.810 GeneticVariation GWASDB Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. 23955597 2013
dbSNP: rs4273077
rs4273077
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0026764
Disease:
Multiple Myeloma 		G 0.810 GeneticVariation GWASCAT Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. 23955597 2013
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes. 27123465 2016
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. 23237420 2013
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR CVID-associated TACI mutations affect autoreactive B cell selection and activation. 24051380 2013
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI). 22983507 2013
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations. 22884984 2012
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood. 22697072 2012
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice. 21458042 2011
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency. 21419480 2011
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency. 20889194 2010
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR Role of TNFRSF13B variants in patients with common variable immunodeficiency. 19779048 2009
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. 17392797 2007
dbSNP: rs104894649
rs104894649
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.800 GeneticVariation UNIPROT TACI is mutant in common variable immunodeficiency and IgA deficiency. 16007086 2005
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C1836032
Disease:
Immunoglobulin a deficiency 2 		0.800 GeneticVariation UNIPROT TACI is mutant in common variable immunodeficiency and IgA deficiency. 16007086 2005
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.800 GeneticVariation UNIPROT TACI is mutant in common variable immunodeficiency and IgA deficiency. 16007086 2005
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 GeneticVariation CLINVAR Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. 16007087 2005
dbSNP: rs104894649
rs104894649
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C1836032
Disease:
Immunoglobulin a deficiency 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs74998556
rs74998556
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0030489
Disease:
Paraproteinemias 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of monoclonal gammopathy of unknown significance (MGUS): comparison with multiple myeloma. 30737484 2019
dbSNP: rs74998556
rs74998556
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0026470
Disease:
Monoclonal Gammopathy of Undetermined Significance 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of monoclonal gammopathy of unknown significance (MGUS): comparison with multiple myeloma. 30737484 2019
dbSNP: rs34562254
rs34562254
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018