rs5333

This is a synonymous variant in the EDNRA gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

red blood cell density

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR —

p 5.0e-13

N 727,624

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

Mandibulofacial dysostosis with alopecia (MFDA)

View on ClinVar →

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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