rs1641512

This is a 3 prime utr variant variant in the ATP1B2 gene.

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GWAS Catalog Trait Associations (1)

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

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.01
p 1.0e-12
N 405,979
Large GWAS
European
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Research that mentions this SNP (1)

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Common genetic variation in TP53 and its flanking genes, WDR79 and ATP1B2, and susceptibility to breast cancer
AssociationN=8,046Montserrat Garcia‐Closas et al.(2007)· International Journal of Cancer

Case-control study of 731 Norwegian and 1,995 Polish breast cancer cases with 1,124 and 2,296 controls respectively, investigating common genetic variation in TP53 and flanking genes WDR79 and ATP1B2. No significant overall TP53 SNP associations with breast cancer risk were found, but WDR79 rs2287499 (R68G) showed increased risk (OR=1.60 for GG vs CC, p-trend=0.01). Notably, rs2287499 and rs17887200 (TP53) were associated specifically with ER-negative breast cancers (OR=1.42 and 1.48 respectively, p-trend<0.01), but not ER-positive tumors.

Traits studied:Breast cancerER-negative breast cancerER-positive breast cancer
PubMedDOIMetascience Observatory

About ATP1B2

The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

View all ATP1B2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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