rs2681472

This is a intron variant variant in the ATP2B1 gene.

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GWAS Catalog Trait Associations (8)

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

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 C
OR 0.59
p 1.0e-21
N 146,562
Meta-analysisLarge 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 C
OR 0.46
p 5.0e-17
N 130,777
Large GWAS
multi-ancestry

systolic blood 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 A
OR 0.72
p 1.0e-20
N 130,777
Large GWAS
multi-ancestry

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 0.95
p 2.0e-18
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 0.03
p 4.0e-12
N 640,258
Large GWAS
European, East Asian
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 1.08
p 6.0e-11
N 187,599
Meta-analysisLarge 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 1.07
p 8.0e-11
N 63,731
Large GWAS
European, NR

pulse pressure measurement

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 A
OR 0.40
p 5.0e-14
N 130,777
Large GWAS
multi-ancestry

myocardial infarction

Hartiala JA et al. “Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.” European Heart Journal 42(9):919-933 (2021)
Allele G
OR 1.07
p 1.0e-12
N 639,221
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 G
OR 0.07
p 1.0e-11
N 623,029
Large 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 G
OR 1.08
p 6.0e-9
N 166,459
Meta-analysisLarge GWAS
multi-ancestry

hypertension

Levy D et al. “Genome-wide association study of blood pressure and hypertension.” Nature Genetics 41(6):677-87 (2009)
Allele A
OR 0.15
p 2.0e-11
N 29,136
Large GWAS
European

diastolic blood 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 A
OR 0.33
p 4.0e-11
N 130,777
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 A
OR 0.50
p 1.0e-9
N 29,136
Large GWAS
European

brain aneurysm

Bakker MK et al. “Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.” Nature Genetics 52(12):1303-1313 (2020)
Allele A
OR 0.12
p 7.0e-9
N 317,636
Large GWAS
multi-ancestry

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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