rs13419763

This variant is located in the PNKD gene.

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GWAS Catalog Trait Associations (3)

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

Red cell distribution width

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 0.03

p 2.0e-23

N 548,926

Major Consortium StudyLarge GWAS

multi-ancestry

neutrophil count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele T

OR 0.02

p 1.0e-14

N 408,112

Large GWAS

European

basophil count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele T

OR 0.02

p 2.0e-12

N 408,112

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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]