rs12946454
This is a upstream gene variant variant in the ACBD4 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
pulse pressure measurement
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele A
OR 0.19
p 3.0e-10
N 321,262
Large GWAS
multi-ancestry
systolic blood pressure
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele T
OR 0.27
p 1.0e-9
N 321,262
Large GWAS
multi-ancestry
Newton-Cheh C et al. “Genome-wide association study identifies eight loci associated with blood pressure.” Nature Genetics 41(6):666-76 (2009)
Allele T
OR 0.57
p 1.0e-8
N 34,433
Large GWAS
multi-ancestry
About ACBD4
This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
View all ACBD4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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