rs12199346

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GWAS Catalog Trait Associations (1)

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

ascending aorta diameter

Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)
Allele C
OR 0.04
p 2.0e-10
N 38,372
Large GWAS
European, NR
Pirruccello JP et al. “Deep learning enables genetic analysis of the human thoracic aorta.” Nature Genetics 54(1):40-51 (2022)
Allele C
OR —
p 2.0e-10
N 38,694
Large GWAS
European
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Research that mentions this SNP (1)

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Identification of aDMBT1polymorphism associated with increased breast cancer risk and decreased promoter activity
FunctionalTchatchou S. et al.(2010)· Human Mutation

This functional study identified 60 candidate differential allele-specific expression (DASE) loci in normal breast mammary epithelial cells using genome-wide SNP array analysis and validated them through Sanger sequencing. Key findings include identification of DMBT1 rs2981745 as a causal variant for DASE (DASE=2.03, P=0.0017, FDR=0.014), along with cancer-related genes ZNF331 and USP6 in a breast cancer-relevant pathway network. The study demonstrates that global DASE analysis is a novel approach for identifying breast cancer risk alleles.

Traits studied:Breast cancer riskBreast cancer susceptibility
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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