rs6873472

This is a intron variant variant in the CERT1 gene.

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GWAS Catalog Trait Associations (4)

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

total lipids in large HDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.04
p 2.0e-75
N 450,015
Large GWAS
multi-ancestry

free cholesterol in very large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 3.0e-32
N 450,015
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.09
p 3.0e-29
N 38,000
Large GWAS
South Asian

total cholesterol measurement

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.08
p 6.0e-29
N 38,000
Large GWAS
South Asian
Nagy R et al. “Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.” Genome Medicine 9(1):23 (2017)
Allele A
OR 0.06
p 8.0e-9
N 26,122
Major Consortium StudyLarge GWAS
European

About CERT1

This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all CERT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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