rs1422278
This is a regulatory region variant variant in the PRDM6 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
systolic blood pressure
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.51
p 7.0e-23
N 526,001
Large GWAS
European
diastolic blood pressure
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele T
OR 0.02
p 2.0e-19
N 1,212,859
Large GWAS
European
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.24
p 2.0e-15
N 526,001
Large GWAS
European
Calcium channel blocker use measurement
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele T
OR 0.08
p 1.0e-10
N 204,378
Major Consortium StudyLarge GWAS
European
Agents acting on the renin-angiotensin system use measurement
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele T
OR 0.05
p 1.0e-9
N 237,530
Major Consortium StudyLarge GWAS
European
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.
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