COPZ2, COPI coat complex subunit zeta 2, 51226

N. diseases: 3; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72823592
rs72823592
Entrez Id: 51226
Gene Symbol: COPZ2
COPZ2
CUI: C0014544
Disease:
Epilepsy 		G 0.800 GeneticVariation GWASCAT Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 22949513 2012
dbSNP: rs72823592
rs72823592
Entrez Id: 51226
Gene Symbol: COPZ2
COPZ2
CUI: C0014544
Disease:
Epilepsy 		G 0.800 GeneticVariation GWASDB Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 22949513 2012
dbSNP: rs12602010
rs12602010
Entrez Id: 4779;51226
Gene Symbol: NFE2L1;COPZ2
NFE2L1;COPZ2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3764400
rs3764400
Entrez Id: 4779;51226
Gene Symbol: NFE2L1;COPZ2
NFE2L1;COPZ2
CUI: C0578022
Disease:
Finding of body mass index 		C 0.700 GeneticVariation GWASDB Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. 20935630 2010
dbSNP: rs3764400
rs3764400
Entrez Id: 4779;51226
Gene Symbol: NFE2L1;COPZ2
NFE2L1;COPZ2
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. 20935630 2010
dbSNP: rs3764400
rs3764400
Entrez Id: 4779;51226
Gene Symbol: NFE2L1;COPZ2
NFE2L1;COPZ2
CUI: C0005893
Disease:
Body mass index procedure 		C 0.700 GeneticVariation GWASDB Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. 20935630 2010
dbSNP: rs9898218
rs9898218
Entrez Id: 51226
Gene Symbol: COPZ2
COPZ2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE The results showed that only rs9898218 was associated with AD risk with <i>P</i> = 0.017. 31608112 2019
dbSNP: rs72823592
rs72823592
Entrez Id: 51226
Gene Symbol: COPZ2
COPZ2
CUI: C0014548
Disease:
Epilepsy, Generalized 		0.010 GeneticVariation BEFREE This sequence change has been reported in the 1000 Genomes project suggesting it could be a polymorphism but alternatively it could be a common mutation, perhaps responsible for the susceptibility locus for genetic generalized epilepsy on 17q21.32 (close to rs72823592). 24645144 2014