rs2681492

This is a regulatory region variant variant in the ATP2B1 gene.

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GWAS Catalog Trait Associations (10)

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

systolic blood pressure

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 T
OR 0.07
p 1.0e-100
N 425,740
Major Consortium StudyLarge GWAS
European
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 T
OR 0.05
p 3.0e-47
N 153,950
Large GWAS
East Asian
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.72
p 1.0e-20
N 130,777
Large GWAS
multi-ancestry
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 0.53
p 9.0e-14
N 99,785
Large GWAS
multi-ancestry
Levy D et al. “Genome-wide association study of blood pressure and hypertension.” Nature Genetics 41(6):677-87 (2009)
Allele T
OR 0.85
p 4.0e-11
N 29,136
Large GWAS
European

diastolic 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 T
OR 0.31
p 1.0e-24
N 321,262
Large GWAS
multi-ancestry
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.33
p 4.0e-11
N 130,777
Large GWAS
multi-ancestry

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 T
OR 0.34
p 2.0e-24
N 321,262
Large GWAS
multi-ancestry
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.40
p 5.0e-14
N 130,777
Large GWAS
multi-ancestry

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 T
OR 0.07
p 1.0e-22
N 429,794
Major Consortium StudyLarge GWAS
European

mean arterial pressure

Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.46
p 5.0e-17
N 130,777
Large GWAS
multi-ancestry

myocardial infarction

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 T
OR 0.08
p 5.0e-14
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

fibromuscular dysplasia

Georges A et al. “Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.” Nature Communications 12(1):6031 (2021)
Allele T
OR 1.43
p 2.0e-8
N 8,656
Large GWAS
European

coronary artery disease

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 T
OR 0.06
p 9.0e-15
N 547,261
Large GWAS

About ATP2B1

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all ATP2B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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