rs2296436

This variant is located in the HPS1 gene.

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GWAS Catalog Trait Associations (2)

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

sialate O-acetylesterase measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.21

p 2.0e-19

N 10,708

Large GWAS

European

calcium measurement

Young WJ et al. “Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank.” Circulation. Genomic and Precision Medicine 14(3):e003231 (2021)

Allele C

OR 0.00

p 9.0e-12

N 305,349

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Likely Benign★★★☆

10 submitters3 publications

Hermansky-Pudlak syndrome 1; not specified; not provided; Hermansky-Pudlak syndrome

View on ClinVar →

About HPS1

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]