rs147302249

This variant is located in the LRPPRC gene.

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GWAS Catalog Trait Associations (1)

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

HMG CoA reductase inhibitor use measurement

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 0.21
p 1.0e-10
N 178,726
Large GWAS
East Asian
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ClinVar annotation

Uncertain Significance★★★☆
4 submitters3 publications

Inborn genetic diseases; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; LRPPRC-related disorder

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About LRPPRC

This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]

View all LRPPRC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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