rs76440173

This variant is located in the SLC33A1 gene.

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GWAS Catalog Trait Associations (2)

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

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.09
p 3.0e-11
N 1,320,016
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.09
p 2.0e-8
N 480,086
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.08
p 1.0e-10
N 1,320,016
Large GWAS
European
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ClinVar annotation

Conflicting Classifications
8 submitters4 publications

not provided; Spastic paraplegia; not specified; Hereditary spastic paraplegia 42; Hereditary spastic paraplegia

View on ClinVar →

About SLC33A1

The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]

View all SLC33A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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