rs3094013

This is a downstream gene variant variant.

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GWAS Catalog Trait Associations (4)

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

polymyositis

Rothwell S et al. “Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.” Annals of the Rheumatic Diseases 75(8):1558-66 (2016)

Allele T

OR 2.97

p 6.0e-76

N 16,582

Large GWAS

European

Raynaud disease

Hartmann S et al. “ADRA2A and IRX1 are putative risk genes for Raynaud's phenomenon.” Nature Communications 14(1):6156 (2023)

Allele G

OR 1.17

p 1.0e-8

N 444,441

Large GWAS

multi-ancestry

BMI-adjusted waist-hip ratio, physical activity measurement

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)

Allele G

OR 0.05

p 5.0e-8

N 156,653

Meta-analysisLarge GWAS

multi-ancestry

Inguinal hernia

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)

Allele G

OR 1.09

p 5.0e-8

N 275,546

Major Consortium StudyLarge GWAS

European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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