COPZ1, COPI coat complex subunit zeta 1, 22818

N. diseases: 14; N. variants: 10
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10876550
rs10876550 		12 54318524 intron variant G/A snv 0.68
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.800 1.000 2 2011 2014
dbSNP: rs4326844
rs4326844 		12 54342686 intron variant A/C;G snv 0.68
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 2 2013 2019
dbSNP: rs4759076
rs4759076 		12 54336088 intron variant T/C snv 0.42
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs79755767
rs79755767 		12 54304624 intron variant G/A;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2017 2019
dbSNP: rs79755767
rs79755767 		12 54304624 intron variant G/A;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2017 2019
dbSNP: rs10876550
rs10876550 		12 54318524 intron variant G/A snv 0.68
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11451044
rs11451044 		12 54322000 intron variant -/A ins 0.68
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11559982
rs11559982 		12 54317790 non coding transcript exon variant A/G snv 0.68
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11559982
rs11559982 		12 54317790 non coding transcript exon variant A/G snv 0.68
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs60822569
rs60822569 		12 54323725 intron variant TTCTC/-;TTCTCTTCTC;TTCTCTTCTCTTCTC delins
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs7297265
rs7297265 		12 54325905 intron variant A/C;G;T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11170877
rs11170877 		0.925 0.080 12 54340505 start lost A/G snv 0.16 0.17
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs11170877
rs11170877 		0.925 0.080 12 54340505 start lost A/G snv 0.16 0.17
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12231393
rs12231393 		0.925 0.080 12 54318989 intron variant T/C snv 0.14
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12231393
rs12231393 		0.925 0.080 12 54318989 intron variant T/C snv 0.14
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014