rs34557412, TNFRSF13B

N. diseases: 15
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 GeneticVariation CLINVAR Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes. 27123465 2016
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 GeneticVariation CLINVAR TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. 23237420 2013
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 GeneticVariation CLINVAR CVID-associated TACI mutations affect autoreactive B cell selection and activation. 24051380 2013
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
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
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 GeneticVariation CLINVAR Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations. 22884984 2012
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 GeneticVariation CLINVAR The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood. 22697072 2012
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
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
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 GeneticVariation CLINVAR Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency. 21419480 2011
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
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
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 GeneticVariation CLINVAR Role of TNFRSF13B variants in patients with common variable immunodeficiency. 19779048 2009
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 GeneticVariation CLINVAR Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. 17392797 2007
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 GeneticVariation UNIPROT TACI is mutant in common variable immunodeficiency and IgA deficiency. 16007086 2005
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 GeneticVariation CLINVAR Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. 16007087 2005
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 SusceptibilityMutation CLINVAR
IMMUNODEFICIENCY, COMMON VARIABLE, 2
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
0.800 CausalMutation CLINVAR