rs1412957

This variant is located in the EYA2 gene.

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GWAS Catalog Trait Associations (3)

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

serum alanine aminotransferase amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.01
p 2.0e-14
N 928,679
Large GWAS
multi-ancestry
Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)
Allele A
OR 0.00
p 4.0e-11
N 1,010,710
Large GWAS
European
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele A
OR 0.00
p 2.0e-10
N 437,267
Large GWAS
European

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele A
OR 0.01
p 4.0e-10
N 370,125
Large GWAS
European

About EYA2

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]

View all EYA2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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