Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C1565489
Disease:
Renal Insufficiency 		0.010 GeneticVariation BEFREE We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration. 16630947 2006
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0019214
Disease:
Hepatosplenomegaly 		0.010 GeneticVariation BEFREE We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration. 16630947 2006
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.100 GeneticVariation BEFREE We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration. 16630947 2006
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.100 GeneticVariation BEFREE We investigated a family with CVID and identified the heterozygous C104R TNFRSF13B mutation in two of the three index-children with CVID, a mother with selective immunoglobulin A deficiency, a mother with recurrent infections and a healthy grandfather. 19210517 2009
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.100 GeneticVariation BEFREE We have replicated an association of CVID to p.C104R in TNFRSF13B and reported the second case of homozygous patient to date. 29867916 2018
dbSNP: rs145711865
rs145711865
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0086438
Disease:
Hypogammaglobulinemia 		0.010 GeneticVariation BEFREE We have identified a patient with hypogammaglobulinemia carrying a missense mutation (S231R) predicted to affect the THC. 23225259 2013
dbSNP: rs72553883
rs72553883
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.050 GeneticVariation BEFREE TNFRSF13B hemizygosity does not recapitulate autoimmune features of CVID-associated C104R and A181E TNFRSF13B mutations, which likely encode dominant negative products, but instead reveals selective TACI haploinsufficiency at later stages of B-cell development. 26100089 2015
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.100 GeneticVariation BEFREE TNFRSF13B hemizygosity does not recapitulate autoimmune features of CVID-associated C104R and A181E TNFRSF13B mutations, which likely encode dominant negative products, but instead reveals selective TACI haploinsufficiency at later stages of B-cell development. 26100089 2015
dbSNP: rs72553875
rs72553875
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		GT 0.700 CausalMutation CLINVAR TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development. 26100089 2015
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.100 GeneticVariation BEFREE This work demonstrates that TACI preassembles as an oligomeric complex prior to ligand binding and provides a mechanistic insight into how the heterozygous C104R TACI mutation can potentially lead to CVID. 17492055 2007
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.100 GeneticVariation BEFREE These associations indicate that C104R heterozygosity increases the risk for common variable immunodeficiency disorders and influences clinical presentation. 18981294 2009
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C2936664
Disease:
Acquired Hypogammaglobulinemia 		0.040 GeneticVariation BEFREE These associations indicate that C104R heterozygosity increases the risk for common variable immunodeficiency disorders and influences clinical presentation. 18981294 2009
dbSNP: rs72553883
rs72553883
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.050 GeneticVariation BEFREE The two most common TACI mutants associated with CVID--C104R and A181E--are primarily found as heterozygous mutations suggesting that they either cause haploinsufficiency or exert a dominant negative effect. 18978466 2008
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.100 GeneticVariation BEFREE The two most common TACI mutants associated with CVID--C104R and A181E--are primarily found as heterozygous mutations suggesting that they either cause haploinsufficiency or exert a dominant negative effect. 18978466 2008
dbSNP: rs35062843
rs35062843
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.010 GeneticVariation BEFREE The silent mutation p.P97P was shown to be associated significantly with CVID compared with the controls in both Czech patients (allele frequency 4.3% vs. 0.2%, p=0.01) and in connection with the published data (5.1% vs. 1.8%, p=0.003). 22884984 2012
dbSNP: rs72553883
rs72553883
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C3150354
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		T 0.700 GeneticVariation CLINVAR The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 19605846 2009
dbSNP: rs72553883
rs72553883
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.050 GeneticVariation BEFREE The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 19605846 2009
dbSNP: rs72553883
rs72553883
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C2936664
Disease:
Acquired Hypogammaglobulinemia 		0.030 GeneticVariation BEFREE The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 19605846 2009
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: C0009447
Disease:
Common Variable Immunodeficiency 		0.100 GeneticVariation BEFREE The contribution of the C104R mutation to the B-cell defects observed in patients with common variable immunodeficiency therefore remains unclear. 21458042 2011
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C2936664
Disease:
Acquired Hypogammaglobulinemia 		0.040 GeneticVariation BEFREE The contribution of the C104R mutation to the B-cell defects observed in patients with common variable immunodeficiency therefore remains unclear. 21458042 2011
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 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: C0032181
Disease:
Platelet Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs34557412
rs34557412
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0200635
Disease:
Lymphocyte Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016