rs8014204
This is a downstream gene variant variant in the PROX2 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
diastolic blood pressure
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.07
p 3.0e-8
N 1,317,884
Meta-analysisLarge GWAS
multi-ancestry
total cholesterol measurement
Liu DJ et al. “Exome-wide association study of plasma lipids in >300,000 individuals.” Nature Genetics 49(12):1758-1766 (2017)
Allele A
OR —
β 0.016
p 3.0e-8
N 237,050
Large GWAS
European
systolic blood pressure
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.16
p 8.0e-9
N 810,865
Meta-analysisLarge GWAS
European
About PROX2
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
View all PROX2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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