rs2114039

This is a upstream gene variant variant.

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GWAS Catalog Trait Associations (1)

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

corneal topography

Han S et al. “Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.” Human Molecular Genetics 20(18):3693-8 (2011)
Allele C
OR 0.13
p 1.0e-9
N 4,289
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Interactions between environmental factors and polymorphisms in angiogenesis pathway genes in esophageal adenocarcinoma risk: A case‐only study
AssociationN=335Rihong Zhai et al.(2012)· Cancer

Case-only study of 335 esophageal adenocarcinoma (EA) patients examining gene-environment interactions in angiogenesis pathway genes. Identified significant interactions between SNPs in HIF1AN, TSC2, VEGFR1, PDGFRA, and PDGFRB with GERD, smoking, and BMI. Notable findings include rs2295778 (HIF1AN)-GERD with OR=2.23 (p=0.0005) and dose-response effects with cumulative risk genotypes (OR=12.07 for >5 risk genotypes vs BMI≥25).

Traits studied:Body mass indexEsophageal adenocarcinomaGERDSmoking exposure
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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