rs12483959
This is a intron variant variant in the PNPLA3 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum alanine aminotransferase amount
Kim YJ et al. “Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.” Nature Genetics 43(10):990-5 (2011)
Allele A
OR 0.00
p 2.0e-39
N 12,545
Large GWAS
East Asian
fatty liver disease
Choe EK et al. “Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.” Scientific Reports 12(1):1930 (2022)
Allele A
OR 0.36
p 1.0e-30
N 9,680
Large GWAS
East Asian
triglyceride measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele G
OR 0.08
p 6.0e-27
N 5,662
Large GWAS
South Asian
X-23641 measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.20
p 8.0e-13
N 6,136
Large GWAS
European
About PNPLA3
The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]
View all PNPLA3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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