rs141669436

This is a intron variant variant in the KALRN gene.

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GWAS Catalog Trait Associations (1)

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

platelet volume

Choe EK et al. “Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.” Scientific Reports 12(1):1930 (2022)

Allele G

OR 0.15

p 4.0e-21

N 9,689

Large GWAS

East Asian

About KALRN

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]

View all KALRN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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