rs2736609
This is a intron variant variant in the PMF1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
mosaic loss of chromosome Y measurement
Wright DJ et al. “Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility.” Nature Genetics 49(5):674-679 (2017)
Allele T
OR —
β 0.003
p 2.0e-19
N 67,034
Large GWAS
European
age at menopause
Ruth KS et al. “Genetic insights into biological mechanisms governing human ovarian ageing.” Nature 596(7872):393-397 (2021)
Allele T
OR 0.06
p 7.0e-12
N 201,323
Large GWAS
multi-ancestry
About PMF1
Enables leucine zipper domain binding activity and transcription coactivator activity. Involved in chromosome segregation. Located in Golgi apparatus; kinetochore; and nucleoplasm. Part of MIS12/MIND type complex. Implicated in bladder carcinoma and urinary bladder cancer. [provided by Alliance of Genome Resources, Jul 2025]
View all PMF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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