COPZ1, COPI coat complex subunit zeta 1, 22818

N. diseases: 14; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4326844
rs4326844
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0032181
Disease:
Platelet Count measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs10876550
rs10876550
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		A 0.800 GeneticVariation GWASDB A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. 24026423 2014
dbSNP: rs4326844
rs4326844
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0032181
Disease:
Platelet Count measurement 		A 0.800 GeneticVariation GWASDB GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
dbSNP: rs4326844
rs4326844
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0032181
Disease:
Platelet Count measurement 		A 0.800 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
dbSNP: rs10876550
rs10876550
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		G 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs10876550
rs10876550
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		G 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs7297265
rs7297265
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C1861172
Disease:
Venous Thromboembolism 		0.700 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs79755767
rs79755767
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs79755767
rs79755767
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10876550
rs10876550
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0032181
Disease:
Platelet Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs4759076
rs4759076
Entrez Id: 22818;442892
Gene Symbol: COPZ1;MIR148B
COPZ1;MIR148B
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs4759076
rs4759076
Entrez Id: 22818;442892
Gene Symbol: COPZ1;MIR148B
COPZ1;MIR148B
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs79755767
rs79755767
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs79755767
rs79755767
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0427460
Disease:
Red cell distribution width determination 		A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs11451044
rs11451044
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		CA 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11559982
rs11559982
Entrez Id: 22818;106479986
Gene Symbol: COPZ1;RNU6-950P
COPZ1;RNU6-950P
CUI: C3828530
Disease:
Platelet Component Distribution Width Measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11559982
rs11559982
Entrez Id: 22818;106479986
Gene Symbol: COPZ1;RNU6-950P
COPZ1;RNU6-950P
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: rs60822569
rs60822569
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		TTTCTC 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11170877
rs11170877
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0024623
Disease:
Malignant neoplasm of stomach 		0.010 GeneticVariation BEFREE Polymorphisms of miR-148b rs11170877 and 12231393 and their haplotypes were predictive factors of susceptibility to GC. 25261463 2014
dbSNP: rs11170877
rs11170877
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0699791
Disease:
Stomach Carcinoma 		0.010 GeneticVariation BEFREE Polymorphisms of miR-148b rs11170877 and 12231393 and their haplotypes were predictive factors of susceptibility to GC. 25261463 2014
dbSNP: rs12231393
rs12231393
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0699791
Disease:
Stomach Carcinoma 		0.010 GeneticVariation BEFREE The rs11170877 G allele (P = 0.027) and the rs12231393 C allele (P = 0.034) were associated with a decreased risk of GC. 25261463 2014
dbSNP: rs12231393
rs12231393
Entrez Id: 22818
Gene Symbol: COPZ1
COPZ1
CUI: C0024623
Disease:
Malignant neoplasm of stomach 		0.010 GeneticVariation BEFREE The rs11170877 G allele (P = 0.027) and the rs12231393 C allele (P = 0.034) were associated with a decreased risk of GC. 25261463 2014