rs2521501

This variant is located in the FES gene.

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GWAS Catalog Trait Associations (10)

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

diastolic blood pressure

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 8.0e-28
N 394,642
Large GWAS
European
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele T
OR 0.27
p 2.0e-22
N 321,262
Large GWAS
multi-ancestry
Ehret GB et al. “The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.” Nature Genetics 48(10):1171-1184 (2016)
Allele T
OR 0.36
p 2.0e-17
N 201,529
Large GWAS
European
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele T
OR 0.39
p 1.0e-13
N 150,134
Large GWAS
multi-ancestry
Ehret GB et al. “Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.” Nature 478(7367):103-9 (2011)
Allele T
OR 0.36
p 2.0e-15
N 69,395
Large GWAS
European

systolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele A
OR 0.50
p 2.0e-26
N 321,262
Large GWAS
multi-ancestry
Ehret GB et al. “The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.” Nature Genetics 48(10):1171-1184 (2016)
Allele A
OR 0.64
p 3.0e-20
N 201,529
Large GWAS
European
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele A
OR 0.61
p 1.0e-12
N 150,134
Large GWAS
multi-ancestry
Ehret GB et al. “Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.” Nature 478(7367):103-9 (2011)
Allele A
OR 0.65
p 5.0e-19
N 69,395
Large GWAS
European

pulse pressure measurement

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele A
OR 0.23
p 7.0e-14
N 321,262
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in small VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 3.0e-11
N 450,015
Large GWAS
multi-ancestry

osteoarthritis, hip, osteoarthritis, knee

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele A
OR 1.03
p 2.0e-10
N 1,294,321
Large GWAS
multi-ancestry

coffee consumption measurement

Said MA et al. “Associations of Observational and Genetically Determined Caffeine Intake With Coronary Artery Disease and Diabetes Mellitus.” Journal of the American Heart Association 9(24):e016808 (2020)
Allele A
OR 0.01
p 2.0e-9
N 373,522
Large GWAS
European
Zhong VW et al. “A genome-wide association study of bitter and sweet beverage consumption.” Human Molecular Genetics 28(14):2449-2457 (2019)
Allele A
OR 0.01
p 4.0e-8
N 335,909
Large GWAS
European

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele A
OR 0.02
p 3.0e-8
N 1,840,341
Large GWAS
European

mean arterial pressure

Wain LV et al. “Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.” Nature Genetics 43(10):1005-11 (2011)
Allele T
OR 0.34
p 3.0e-8
N 74,064
Large GWAS
European
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Research that mentions this SNP (1)

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A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure
AssociationN=1,428Hannu Turpeinen et al.(2015)· Human Genetics

A genome-wide eQTL analysis in >1400 blood samples identified 10 independent loci regulating proprotein convertase (PCSK) gene expression, with rs4702 as a novel cis-eQTL for FURIN showing genome-wide significance (p=6.14e-10). The rs4702 AA genotype was significantly associated with increased diastolic (p=0.012) and systolic (p=0.035) blood pressure, as well as systemic vascular resistance (p=0.003), with effect sizes of ~0.75 mmHg diastolic and ~1.0 mmHg systolic per coded allele.

Traits studied:Blood pressure (systolic and diastolic)Cardiac outputHeart ratePCSK gene expression (eQTL)Stroke volumeSystemic vascular resistance
PubMedDOIMetascience Observatory

About FES

This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]

View all FES variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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