rs1048483

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GWAS Catalog Trait Associations (4)

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

pulse pressure measurement

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.18
p 8.0e-14
N 526,001
Large GWAS
European

systolic blood pressure

Teixeira SK et al. “Assessing the predictive efficacy of European-based systolic blood pressure polygenic risk scores in diverse Brazilian cohorts.” Scientific Reports 14(1):28123 (2024)
Allele T
OR 0.37
p 3.0e-10
N 286,581
Large GWAS
European

venous thromboembolism

Lindström S et al. “Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.” Blood 134(19):1645-1657 (2019)
Allele T
OR 1.06
p 3.0e-9
N 202,356
Large GWAS
multi-ancestry
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele T
OR 0.05
p 2.0e-8
N 1,063,277
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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A functional polymorphism in MIR196A2 is associated with risk and prognosis of gastric cancer
ReviewShizhi Wang et al.(2013)· Molecular Carcinogenesis

This comprehensive review analyzes microRNA-related single nucleotide polymorphisms (SNPs) in gastric cancer, focusing on the most commonly studied variants including pre-miR-146a rs2910164, pre-miR-196a2 rs11614913, pre-miR-149 rs2292832, and pre-miR-499 rs3746444. The paper reviews 45 studies examining associations between miRNA polymorphisms and gastric cancer risk, including 18 studies on rs2910164 showing conflicting results (OR range 0.81-1.58), 13 studies on rs11614913 with no overall significant association, and analysis of pri-miRNA, pre-miRNA, promoter, and 3'-UTR variants. Additional variants identified include rs712 in let-7 (OR = 3.05; 95% CI = 1.53-6.08), rs12904 in miR-200c (OR = 0.65; 95% CI = 0.50-0.85), and rs12537 in miR-181a (OR = 1.72; 95% CI = 1.36-2.16).

Traits studied:Digestive system cancerGastric cancerGastrointestinal cancerNon-small cell lung cancer
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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