rs812814

This is a intron variant variant in the PPM1H gene.

GWAS Catalog Trait Associations (1)

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

Red cell distribution width

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 1.0e-12
N 408,112
Large GWAS
European
Allele C
OR 0.01
p 5.0e-12
N 394,642
Large GWAS
European

About PPM1H

Enables identical protein binding activity and phosphoprotein phosphatase activity. Predicted to be involved in signal transduction. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all PPM1H variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…