CPB2, carboxypeptidase B2, 1361

N. diseases: 148; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1926446
rs1926446
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs1926447
rs1926447
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs4942471
rs4942471
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C2985280
Disease:
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs532540191
rs532540191
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs9526137
rs9526137
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs9526138
rs9526138
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C2985280
Disease:
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs9567617
rs9567617
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs11574980
rs11574980
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0392885
Disease:
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11574980
rs11574980
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11574980
rs11574980
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11574980
rs11574980
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0428472
Disease:
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1926447
rs1926447
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0240912
Disease:
Vertical Talus
0.030 GeneticVariation BEFREE In conclusion, TAFI rs3742264, rs2146881, and rs1926447 polymorphisms do not increase the risk of CVT in comparison to healthy controls. 29629564 2018
dbSNP: rs1926447
rs1926447
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0240912
Disease:
Vertical Talus
0.030 GeneticVariation BEFREE For genetic factors, CVT risk increased in the presence of factor V Leiden (G1691A) by 2.5-fold (1.9-3.3), protein C deficiency 10.7-fold (3.1-37.7), protein S deficiency 5.7-fold (1.4-22.4), antithrombin deficiency 3.8-fold (1.0-13.8), prothrombin (G20210A) 5.5-fold (4.0-7.27) and TAFI gene variant (C1040T) 1.6-fold (1.0-2.4). 30005273 2018
dbSNP: rs3742264
rs3742264
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.030 GeneticVariation BEFREE Ethnicity subgroup analysis implied that the rs3742264 G>A polymorphism was more likely to lead to the development of cerebrovascular disease in Asians (all P values < 0.05), whereas rs1926447 C>T was associated with cardiovascular disease among Africans (all P values < 0.05). 27173177 2016
dbSNP: rs1926447
rs1926447
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0240912
Disease:
Vertical Talus
0.030 GeneticVariation BEFREE Our data indicate that the GTC haplotype for TAFI 505G>A/1040C>T/+1542C>G SNPs increased the risk of CVT in comparison to controls and VTE cases. 24252537 2014
dbSNP: rs3742264
rs3742264
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.030 GeneticVariation BEFREE The present meta-analysis failed to confirm the influence of Ala147Thr and Thr325Ile variants on the susceptibility to CVD. 25042727 2014
dbSNP: rs3742264
rs3742264
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.030 GeneticVariation BEFREE In interaction analysis we found statistical evidence of variant-gender interaction conferring risk of CHD and CVD: rs3742264 in the carboxypeptidase B2 gene, p(interaction) = 0.009 for CHD, and rs2774279 in the upstream stimulatory factor 1 gene, p(interaction) = 0.007 for CHD and CVD, showed strong association in women but not in men, while rs2069840 in interleukin 6 gene, p(interaction) = 0.004 for CVD, showed strong association in men but not in women (uncorrected p-values). 18974842 2008
dbSNP: rs1265538677
rs1265538677
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE We tested CPB2 Thr325Ile polymorphism using restriction fragment length polymorphism, (RFLP) technique in healthy and carcinoma breast tissues. 29459177 2019
dbSNP: rs3742264
rs3742264
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE The aim was to examine the contribution of the Thr325Ile and Ala147Thr polymorphisms with ST acute myocardial infarction (STEMI) or idiopathic ischemic stroke (IIS) in the young Mexican population. 31781299 2019
dbSNP: rs3742264
rs3742264
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0240912
Disease:
Vertical Talus
0.020 GeneticVariation BEFREE We analyzed the association between CVT and TAFI single-nucleotide polymorphisms (rs3742264, rs2146881, and rs1926447) compared to healthy controls. 29629564 2018
dbSNP: rs3742264
rs3742264
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE Clinical and genetic variables associated with ischaemic stroke were hypertension (P=.03), tobacco use (P=.02), and the polymorphisms Glu298Asp (genotype: P=.001, allele frequency: P=.001) and C677T (genotype: P=.01); the Ala147Thr, Thr325IIe, 4G/5G, and PLA1/A2 mutations were not associated with ischaemic stroke. 29526315 2018
dbSNP: rs1926447
rs1926447
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.020 GeneticVariation BEFREE Ethnicity subgroup analysis implied that the rs3742264 G>A polymorphism was more likely to lead to the development of cerebrovascular disease in Asians (all P values < 0.05), whereas rs1926447 C>T was associated with cardiovascular disease among Africans (all P values < 0.05). 27173177 2016
dbSNP: rs1265538677
rs1265538677
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.020 GeneticVariation BEFREE The present meta-analysis failed to confirm the influence of Ala147Thr and Thr325Ile variants on the susceptibility to CVD. 25042727 2014
dbSNP: rs1926447
rs1926447
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.020 GeneticVariation BEFREE To investigate the associations between two variants Ala147Thr(rs3742264) and Thr325Ile(rs1926447) in TAFI and the risk of CVD. 25042727 2014
dbSNP: rs3742264
rs3742264
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0240912
Disease:
Vertical Talus
0.020 GeneticVariation BEFREE Our data indicate that the GTC haplotype for TAFI 505G>A/1040C>T/+1542C>G SNPs increased the risk of CVT in comparison to controls and VTE cases. 24252537 2014