rs2842873
This variant is located 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.
glomerular filtration rate
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 5.0e-15
N 571,230
Major Consortium StudyLarge GWAS
multi-ancestry
mosaic loss of chromosome Y measurement
Terao C et al. “GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation.” Nature Communications 10(1):4719 (2019)
Allele T
OR —
β 0.056
p 2.0e-36
N 95,380
Large GWAS
East Asian
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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