rs804281

This is a intron variant variant in the GATA4 gene.

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GWAS Catalog Trait Associations (4)

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

vitamin D level

Revez JA et al. “Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.” Nature Communications 11(1):1647 (2020)
Allele A
OR —
β 0.015
p 2.0e-14
N 417,580
Large GWAS
European

triglyceride measurement, physical activity

Kilpeläinen TO et al. “Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.” Nature Communications 10(1):376 (2019)
Allele A
OR —
p 1.0e-13
N 102,281
Large GWAS
multi-ancestry

Brugada syndrome

Barc J et al. “Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.” Nature Genetics 54(3):232-239 (2022)
Allele G
OR 1.22
p 1.0e-9
N 12,821
Large GWAS
European
Ishikawa T et al. “Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.” European Heart Journal 45(26):2320-2332 (2024)
Allele G
OR 1.20
p 1.0e-8
N 15,395
Large GWAS
multi-ancestry

BMI-adjusted waist-hip ratio

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 1.0e-8
N 186,825
Major Consortium StudyLarge GWAS
European

About GATA4

This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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