rs4388979
This variant is located in the USP30 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.
platelet crit
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.05
p 6.0e-40
N 164,339
Large GWAS
European
platelet count
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.04
p 7.0e-32
N 166,066
Large GWAS
European
mitochondrial DNA measurement
Hägg S et al. “Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.” Human Genetics 140(6):849-861 (2021)
Allele G
OR 0.02
p 3.0e-13
N 295,150
Large GWAS
European
Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)
Allele G
OR 0.02
p 3.0e-10
N 163,372
Large GWAS
multi-ancestry
About USP30
USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]
View all USP30 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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