rs28451064

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (20)

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

coronary atherosclerosis

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 0.11
p 2.0e-51
N 424,341
Major Consortium StudyLarge GWAS
European

coronary artery disease

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)
Allele A
OR 1.11
p 2.0e-46
N 1,165,690
Large GWAS
European, NR
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 A
OR 0.04
p 2.0e-17
N 640,258
Large GWAS
European, East Asian
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 A
OR 0.11
p 3.0e-33
N 547,261
Large GWAS
Zhou W et al. “Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.” Nature Genetics 50(9):1335-1341 (2018)
Allele A
OR —
p 1.0e-14
N 408,458
Large GWAS
European
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 A
OR 0.11
p 8.0e-19
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
Nikpay M et al. “A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.” Nature Genetics 47(10):1121-1130 (2015)
Allele A
OR 1.14
p 1.0e-15
N 187,599
Meta-analysisLarge GWAS
multi-ancestry
Klarin D et al. “Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.” Nature Genetics 49(9):1392-1397 (2017)
Allele A
OR 1.18
p 2.0e-8
N 120,286
Major Consortium StudyLarge GWAS
multi-ancestry
Nelson CP et al. “Association analyses based on false discovery rate implicate new loci for coronary artery disease.” Nature Genetics 49(9):1385-1391 (2017)
Allele A
OR 1.14
p 3.0e-23
N 63,731
Large GWAS
European, NR
Saw J et al. “Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction.” Nature Communications 11(1):4432 (2020)
Allele A
OR 0.67
p 3.0e-8
N 4,894
Large GWAS
East Asian, European

heart disease

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 0.12
p 3.0e-27
N 610,583
Major Consortium StudyLarge GWAS
multi-ancestry

spontaneous coronary artery dissection

Adlam D et al. “Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation.” Nature Genetics 55(6):964-972 (2023)
Allele G
OR 2.04
p 1.0e-22
N 11,209
Meta-analysisLarge GWAS
European
Turley TN et al. “Identification of Susceptibility Loci for Spontaneous Coronary Artery Dissection.” Jama Cardiology 5(8):929-938 (2020)
Allele G
OR 2.18
p 1.0e-9
N 1,961
Large GWAS
European

pulse pressure measurement

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 0.22
p 3.0e-16
N 1,028,980
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 2.0e-9
N 506,308
Large GWAS
multi-ancestry
Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele A
OR 0.17
p 4.0e-8
N 459,777
Large GWAS
multi-ancestry

migraine disorder

Hautakangas H et al. “Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.” Nature Genetics 54(2):152-160 (2022)
Allele G
OR 1.07
p 4.0e-15
N 873,341
Large GWAS
European
Choquet H et al. “New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis.” Communications Biology 4(1):864 (2021)
Allele G
OR 0.94
p 3.0e-14
N 889,018
Meta-analysisLarge GWAS
European

diastolic 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 0.03
p 2.0e-14
N 928,679
Large GWAS
multi-ancestry
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 0.13
p 4.0e-8
N 1,028,980
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 1.0e-11
N 485,677
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 4.0e-13
N 394,642
Large GWAS
European

BMI-adjusted waist-hip ratio

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.03
p 5.0e-11
N 186,825
Major Consortium StudyLarge GWAS
European
Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.02
p 3.0e-9
N 315,284
Meta-analysisLarge GWAS
European

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.03
p 7.0e-11
N 219,872
Major Consortium StudyLarge GWAS
European

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele G
OR 0.02
p 1.0e-9
N 426,824
Large GWAS
European
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Research that mentions this SNP (1)

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A Genetic Variant in the Seed Region of miR-4513 Shows Pleiotropic Effects on Lipid and Glucose Homeostasis, Blood Pressure, and Coronary Artery Disease
ReviewMohsen Ghanbari et al.(2014)· Human Mutation

A comprehensive review of long non-coding RNA (lncRNA) genetic variants identified by GWAS studies in cardiometabolic diseases including coronary artery disease, myocardial infarction, type 2 diabetes, and blood pressure traits. The review highlights key lncRNA loci such as CDKN2B-AS1/ANRIL at 9p21.3 (rs10757278, rs2891168), MIAT (rs4977574, rs10811661), H19 (rs217727), LOC157273 (rs9987289, rs4841132), KCNQ1OT1 (rs231362), and LINC00243 (rs886424), discussing mechanisms of how genetic variants in non-coding RNA regions influence cardiovascular and metabolic disease risk.

Traits studied:AtherosclerosisBlood pressureCardiometabolic disordersCoronary artery calcificationCoronary artery diseaseFasting blood insulinHDL cholesterolLDL cholesterolMyocardial infarctionQT intervalTotal cholesterolTriglyceridesType 1 diabetesType 2 diabetes
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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