rs2403254

This is a intron variant variant in the HPS5 gene.

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GWAS Catalog Trait Associations (2)

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

3-hydroxyisovalerate measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)

Allele T

OR —

β 0.041

p 1.0e-30

N 7,668

Large GWAS

European

metabolite measurement

Suhre K et al. “Human metabolic individuality in biomedical and pharmaceutical research.” Nature 477(7362):54-60 (2011)

Allele T

OR 0.10

p 1.0e-20

N 2,820

Large GWAS

European

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ClinVar annotation

Association

1 submitter2 publications

decreased blood alpha-hydroxyisovalerate levels

View on ClinVar →

About HPS5

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]