rs581080

This is a intron variant variant in the TTC39B gene.

▶

GWAS Catalog Trait Associations (21)

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

apolipoprotein A 1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.04
p 5.0e-44
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.04
p 2.0e-32
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele C
OR 0.04
p 1.0e-16
N 222,097
Large GWAS
multi-ancestry
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 2.0e-9
N 133,824
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele C
OR 0.72
p 1.0e-13
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 0.033
p 6.0e-11
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele C
OR —
β 0.042
p 1.0e-19
N 94,595
Large GWAS
European

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.03
p 2.0e-17
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.04
p 2.0e-12
N 219,941
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 1.57
p 3.0e-9
N 100,184
Large GWAS
European
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.038
p 1.0e-13
N 94,595
Large GWAS
European

free cholesterol to total lipids in very large VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 4.0e-15
N 450,015
Large GWAS
multi-ancestry

triglycerides in medium LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.04
p 5.0e-13
N 136,016
Large GWAS
multi-ancestry

About TTC39B

Predicted to be involved in several processes, including cholesterol homeostasis; negative regulation of cholesterol storage; and regulation of cholesterol efflux. [provided by Alliance of Genome Resources, Jul 2025]

View all TTC39B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…