rs10305838

This is a upstream gene variant variant in the EDNRA gene.

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GWAS Catalog Trait Associations (5)

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

angina pectoris

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.09
p 2.0e-20
N 508,073
Large GWAS
multi-ancestry

peripheral vascular disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.08
p 6.0e-17
N 599,134
Major Consortium StudyLarge GWAS
multi-ancestry

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele C
OR 0.20
p 7.0e-16
N 1,028,980
Large GWAS
multi-ancestry

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele C
OR 0.20
p 1.0e-8
N 1,028,980
Large GWAS
multi-ancestry

carotid artery thickness

Yeung MW et al. “Twenty-Five Novel Loci for Carotid Intima-Media Thickness: A Genome-Wide Association Study in >45 000 Individuals and Meta-Analysis of >100 000 Individuals.” Arteriosclerosis, Thrombosis, and Vascular Biology 42(4):484-501 (2022)
Allele T
OR 0.05
p 2.0e-10
N 45,185
Meta-analysisLarge GWAS
multi-ancestry

About EDNRA

This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

View all EDNRA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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