rs4353250

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.

serum amyloid A level

Marzi C et al. “Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.” Plos Genetics 6(11):e1001213 (2010)

Allele T

OR 0.27

p 2.0e-51

N 4,211

Large GWAS

European

IGF-1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.02

p 2.0e-14

N 353,824

Major Consortium StudyLarge GWAS

multi-ancestry

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]

rs4353250

GWAS Catalog Trait Associations (2)

serum amyloid A level

IGF-1 measurement

About HPS5

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