rs3764351
This is a regulatory region variant variant in the PNMT gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.03
p 2.0e-12
N 115,082
Large GWAS
European
omega-6 polyunsaturated fatty acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele G
OR —
p 3.0e-10
N 239,268
Large GWAS
European
QT interval
Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele A
OR 0.02
p 6.0e-9
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
heart failure
Rasooly D et al. “Genome-wide association analysis and Mendelian randomization proteomics identify drug targets for heart failure.” Nature Communications 14(1):3826 (2023)
Allele A
OR 0.03
p 2.0e-8
N 1,279,610
Large GWAS
European
Enzan N et al. “Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population.” Nature Communications 16(1):9680 (2025)
Allele A
OR 0.06
p 2.0e-8
N 480,269
Large GWAS
multi-ancestry
cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.02
p 4.0e-8
N 115,082
Large GWAS
European
smoking status measurement
Liu M et al. “Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.” Nature Genetics 51(2):237-244 (2019)
Allele A
OR 0.01
p 4.0e-8
N 1,232,091
Large GWAS
European
polyunsaturated fatty acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele G
OR —
p 8.0e-9
N 110,346
Large GWAS
European
About PNMT
The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
View all PNMT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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