rs4806073

This is a regulatory region variant variant in the HPN gene.

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GWAS Catalog Trait Associations (7)

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

serum albumin amount

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 0.11
p 1.0e-110
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry
Franceschini N et al. “Discovery and fine mapping of serum protein loci through transethnic meta-analysis.” American Journal of Human Genetics 91(4):744-53 (2012)
Allele C
OR 0.03
p 4.0e-18
N 62,570
Meta-analysisLarge GWAS
multi-ancestry

calcium 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 0.07
p 5.0e-53
N 325,659
Major Consortium StudyLarge GWAS
multi-ancestry

blood protein amount

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 0.06
p 6.0e-38
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.01
p 1.0e-30
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

sex hormone-binding globulin 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 0.05
p 3.0e-28
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

triglyceride 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 0.03
p 7.0e-11
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry

C-reactive protein 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 0.03
p 3.0e-10
N 355,127
Major Consortium StudyLarge GWAS
multi-ancestry

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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