rs2070699

This is a regulatory region variant variant in the EDN1 gene.

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GWAS Catalog Trait Associations (2)

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

colorectal cancer

Fernandez-Rozadilla C et al. “Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.” Nature Genetics 55(1):89-99 (2023)
Allele T
OR 0.05
p 4.0e-15
N 254,791
Large GWAS
multi-ancestry
Law PJ et al. “Association analyses identify 31 new risk loci for colorectal cancer susceptibility.” Nature Communications 10(1):2154 (2019)
Allele T
OR 1.07
p 4.0e-9
N 92,967
Large GWAS
European

glomerular filtration rate

Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele T
OR —
β 0.013
p 2.0e-10
N 406,504
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

About EDN1

This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

View all EDN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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