rs191448950
This is a intron variant variant in the USP24 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
total cholesterol measurement
Surakka I et al. “The impact of low-frequency and rare variants on lipid levels.” Nature Genetics 47(6):589-97 (2015)
Allele G
OR 0.47
p 6.0e-73
N 62,166
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR 0.34
p 1.0e-27
N 94,674
Large GWAS
multi-ancestry
free cholesterol measurement, low density lipoprotein cholesterol measurement
Kettunen J et al. “Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.” Nature Communications 7:11122 (2016)
Allele A
OR —
β 0.500
p 5.0e-56
N 21,555
Large GWAS
European
blood protein amount
Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele G
OR 1.07
p 8.0e-21
N 3,200
Large GWAS
European
free cholesterol:total lipids ratio, blood VLDL cholesterol amount, chylomicron amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.18
p 6.0e-20
N 126,671
Large GWAS
multi-ancestry
level of Sterol ester (27:1/16:0) in blood serum
Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele A
OR 0.51
p 1.0e-9
N 2,624
Large GWAS
European
low density lipoprotein cholesterol measurement
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR 0.39
p 6.0e-35
N 94,674
Large GWAS
multi-ancestry
About USP24
Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]
View all USP24 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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