rs4755725
This variant is located in the HSD17B12 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body fat percentage
Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele C
OR —
β 0.017
p 3.0e-26
N 442,278
Large GWAS
European
aspartate aminotransferase measurement, low density lipoprotein triglyceride measurement, serum alanine aminotransferase amount, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement
Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele C
OR —
p 7.0e-18
N 389,354
Large GWAS
European
serum alanine aminotransferase amount
Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele C
OR —
β 0.013
p 4.0e-9
N 429,203
Large GWAS
European
About HSD17B12
This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
View all HSD17B12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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