rs992157
This is a regulatory region variant variant in the PNKD gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.02
p 4.0e-231
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
platelet crit
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 3.0e-28
N 394,642
Large GWAS
European
colorectal cancer
Tanskanen T et al. “Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.” International Journal of Cancer 142(3):540-546 (2018)
Allele A
OR 1.12
p 2.0e-9
N 15,783
Meta-analysisLarge GWAS
European
About PNKD
This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
View all PNKD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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