rs6842241

This is a regulatory region variant variant in the EDNRA gene.

▶

GWAS Catalog Trait Associations (4)

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

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele A
OR 0.08
p 1.0e-23
N 250,736
Large GWAS

peripheral arterial disease

Matsukura M et al. “Genome-Wide Association Study of Peripheral Arterial Disease in a Japanese Population.” Plos One 10(10):e0139262 (2015)
Allele C
OR 1.18
p 5.0e-9
N 4,168
Large GWAS
East Asian

acne

Mitchell BL et al. “Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.” Nature Communications 13(1):702 (2022)
Allele C
OR 1.10
p 2.0e-8
N 615,396
Meta-analysisLarge GWAS
European

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…