rs251468

This is a intron variant variant in the PPARGC1B gene.

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GWAS Catalog Trait Associations (3)

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

freckles

Endo C et al. “Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.” Scientific Reports 8(1):8974 (2018)
Allele C
OR 1.45
p 1.0e-21
N 11,182
Large GWAS
East Asian

solar lentigines measurement

Endo C et al. “Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.” Scientific Reports 8(1):8974 (2018)
Allele C
OR 1.30
p 6.0e-12
N 11,253
Large GWAS
East Asian

erythrocyte volume

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 0.02
p 1.0e-10
N 480,305
Large GWAS
multi-ancestry

About PPARGC1B

The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

View all PPARGC1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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