rs7924522

This variant is located in the ETS1 gene.

GWAS Catalog Trait Associations (5)

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

open-angle glaucoma

Allele A
OR 0.09
p 3.0e-25
N 432,017
Large GWAS
multi-ancestry
Allele A
OR
β 0.057
p 2.0e-14
N 383,500
Meta-analysisLarge GWAS
multi-ancestry

psoriasis

Allele A
OR 0.09
p 5.0e-17
N 472,819
Meta-analysisLarge GWAS
multi-ancestry

glaucoma

Allele A
OR 1.10
p 7.0e-17
N 351,696
Large GWAS
European
Allele A
OR 1.09
p 3.0e-8
N 137,086
Large GWAS
European

intraocular pressure measurement

Allele C
OR 0.11
p 3.0e-16
N 139,555
Large GWAS
European
Allele C
OR
p 3.0e-15
N 133,492
Large GWAS
European
Gao XR et al. Genome-wide association analyses identify new loci influencing intraocular pressure. Human Molecular Genetics 27(12):2205-2213 (2018)
Allele C
OR 0.12
p 1.0e-15
N 115,486
Large GWAS
European
Allele C
OR 0.12
p 2.0e-14
N 101,939
Major Consortium StudyLarge GWAS
European

lymphocyte count

Kachuri L et al. Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele C
OR
p 8.0e-11
N 234,778
Large GWAS
European

About ETS1

This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]

View all ETS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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