rs71238846
This variant is located in the PLEKHM1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
ovarian carcinoma, COVID-19
Zhao X et al. “A large-scale genome-wide cross-trait analysis for the effect of COVID-19 on female-specific cancers.” Iscience 26(9):107497 (2023)
Allele A
OR —
p 2.0e-13
N 2,158,690
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout PLEKHM1
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
View all PLEKHM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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