rs1688031

This variant is located in the HPN gene.

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GWAS Catalog Trait Associations (8)

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

total blood protein measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.05
p 2.0e-53
N 448,242
Large GWAS
multi-ancestry

testosterone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele T
OR 0.04
p 1.0e-20
N 235,096
Large GWAS
European
Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele T
OR 0.14
p 3.0e-8
N 148,248
Major Consortium StudyLarge GWAS
European

triglycerides to total lipids in very small VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-16
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in very small VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-14
N 450,015
Large GWAS
multi-ancestry

phospholipids in small HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 7.0e-11
N 450,015
Large GWAS
multi-ancestry

sex hormone-binding globulin measurement

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele C
OR 1.39
p 5.0e-12
N 158,000
Major Consortium StudyLarge GWAS
European

urinary albumin to creatinine ratio

Teumer A et al. “Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.” Nature Communications 10(1):4130 (2019)
Allele T
OR 0.02
p 2.0e-11
N 547,361
Large GWAS
European

About HPN

This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

View all HPN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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