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: 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: 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: 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: 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
dbSNP: rs2146881
rs2146881
Entrez Id: 1361;100509894
Gene Symbol: CPB2;CPB2-AS1
CPB2;CPB2-AS1
CUI: C0240912
Disease:
Vertical Talus
0.010 GeneticVariation BEFREE We analyzed the association between CVT and TAFI single-nucleotide polymorphisms (rs3742264, rs2146881, and rs1926447) compared to healthy controls. 29629564 2018