rs11869286

This is a intron variant variant in the STARD3 gene.

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GWAS Catalog Trait Associations (12)

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

HDL cholesterol change 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 C
OR —
p 7.0e-21
N 120,979
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele C
OR —
β 0.032
p 3.0e-17
N 94,595
Large GWAS
European
Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele C
OR 0.01
p 5.0e-8
N 133,824
Large GWAS
multi-ancestry
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.03
p 2.0e-14
N 115,082
Large GWAS
European
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele C
OR 0.51
p 3.0e-14
N 99,900
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele C
OR —
β 0.024
p 2.0e-9
N 94,674
Large GWAS
multi-ancestry

IGF-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 6.0e-15
N 394,642
Large GWAS
European

HDL particle size

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.03
p 4.0e-12
N 115,082
Large GWAS
European

left ventricular mass

Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele G
OR 0.31
p 3.0e-10
N 36,083
Large GWAS
European, NR

About STARD3

This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

View all STARD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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