rs12801636
This variant is located in the PCNX3 gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
high density lipoprotein cholesterol measurement
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.02
p 3.0e-23
N 928,679
Large GWAS
multi-ancestry
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele A
OR 0.02
p 4.0e-10
N 222,097
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele A
OR —
β 0.024
p 3.0e-8
N 94,595
Large GWAS
European
systolic blood pressure
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.02
p 6.0e-23
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 7.0e-15
N 485,664
Large GWAS
multi-ancestry
coronary artery disease
Jordà P et al. “Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases.” Npj Genomic Medicine 10(1):65 (2025)
Allele G
OR 6.85
p 8.0e-12
N 310,368
Large GWAS
European
Matsunaga H et al. “Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease.” Circulation. Genomic and Precision Medicine 13(3):e002670 (2020)
Allele G
OR 1.05
p 2.0e-8
N 392,241
Meta-analysisLarge GWAS
multi-ancestry
van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele G
OR 0.04
p 4.0e-8
N 250,736
Large GWAS
diastolic blood pressure change measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 8.0e-12
N 609,486
Major Consortium StudyLarge GWAS
multi-ancestry
mean arterial pressure
Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele A
OR 0.36
p 4.0e-11
N 146,562
Meta-analysisLarge GWAS
multi-ancestry
aspirin use measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 2.0e-8
N 178,726
Large GWAS
East Asian
PR interval
Ntalla I et al. “Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.” Nature Communications 11(1):2542 (2020)
Allele A
OR 0.41
p 4.0e-8
N 292,566
Large GWAS
multi-ancestry
low density lipoprotein cholesterol measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 2.0e-12
N 578,955
Major Consortium StudyLarge GWAS
multi-ancestry
About PCNX3
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all PCNX3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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