rs2984613

This variant is located in the PMF1 gene.

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GWAS Catalog Trait Associations (3)

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

intracerebral hemorrhage

Woo D et al. “Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage.” American Journal of Human Genetics 94(4):511-21 (2014)

Allele C

OR 1.33

p 2.0e-10

N 3,026

Meta-analysis

multi-ancestry

serum creatinine amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.02

p 6.0e-10

N 150,266

Large GWAS

East Asian

white matter hyperintensity measurement

Verhaaren BF et al. “Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.” Circulation. Cardiovascular Genetics 8(2):398-409 (2015)

Allele C

OR —

p 2.0e-8

N 21,079

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]