rs7203984

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GWAS Catalog Trait Associations (12)

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

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele A
OR 0.02
p 2.0e-12
N 450,243
Major Consortium StudyLarge GWAS
European

metabolic syndrome

Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)
Allele A
OR 0.08
p 1.0e-10
N 107,230
Large GWAS
East Asian

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.01
p 3.0e-10
N 405,540
Large GWAS
European
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Research that mentions this SNP (1)

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Strategies and issues in the detection of pathway enrichment in genome-wide association studies
MethodsN=28,191Mun-Gwan Hong et al.(2009)· Human Genetics

This methodological study develops ProxyGeneLD software for converting genome-wide SNP association data to pathway-enriched gene sets and validates it on multiple large GWAS datasets. The authors demonstrate successful replication of pathway enrichment for plasma HDL levels (with CETP and ABCA1 in lipid metabolism pathways) across independent samples and identify positional gene clustering as a major source of spurious enrichment in pathway analyses of GWAS data.

Traits studied:Crohn's diseasePlasma HDL cholesterolPlasma LDL cholesterolPlasma triglyceride levelsType 2 diabetes
PubMedDOIMetascience Observatory

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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