rs626787

This is a upstream gene variant variant in the USP1 gene.

GWAS Catalog Trait Associations (5)

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

fatty acid amount

Allele G
OR
p 3.0e-108
N 110,346
Large GWAS
European

phospholipids:total lipids ratio

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 6.0e-90
N 450,015
Large GWAS
multi-ancestry

About USP1

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

View all USP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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