rs386484

This variant is located in the PRDM6 gene.

▶

GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele A

OR 0.41

p 9.0e-18

N 1,028,980

Large GWAS

multi-ancestry

diastolic blood pressure

Allele A

OR 0.23

p 4.0e-15

N 1,028,980

Large GWAS

multi-ancestry

pulse pressure measurement

Allele A

OR 0.19

p 3.0e-8

N 1,028,980

Large GWAS

multi-ancestry

About PRDM6

The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]

View all PRDM6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…