rs606452

This is a intron variant variant in the SERPINH1 gene.

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GWAS Catalog Trait Associations (5)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.05
p 1.0e-300
N 4,080,687
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.07
p 3.0e-75
N 607,511
Major Consortium StudyLarge GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 5.0e-97
N 394,642
Large GWAS
European
Wood AR et al. “Defining the role of common variation in the genomic and biological architecture of adult human height.” Nature Genetics 46(11):1173-86 (2014)
Allele A
OR 0.04
p 2.0e-23
N 253,288
Large GWAS
European
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.03
p 2.0e-30
N 153,950
Large GWAS
East Asian
Fernández-Rhodes L et al. “Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.” Hgg Advances 3(2):100099 (2022)
Allele A
OR 0.04
p 2.0e-8
N 59,771
Major Consortium StudyLarge GWAS
Hispanic or Latin American
He M et al. “Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.” Human Molecular Genetics 24(6):1791-800 (2015)
Allele A
OR 0.04
p 1.0e-16
N 36,227
Meta-analysisLarge GWAS
East Asian
Carty CL et al. “Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).” Human Molecular Genetics 21(3):711-20 (2012)
Allele A
OR 0.04
p 2.0e-9
N 8,149
CohortLarge GWAS
African American or Afro-Caribbean

coronary artery disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.06
p 3.0e-21
N 417,274
Major Consortium StudyLarge GWAS
European
van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele A
OR 0.05
p 5.0e-11
N 547,261
Large GWAS

coronary atherosclerosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.06
p 7.0e-20
N 424,341
Major Consortium StudyLarge GWAS
European

BMI-adjusted hip circumference

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.03
p 1.0e-8
N 143,480
Large GWAS
multi-ancestry

BMI-adjusted waist circumference

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele A
OR 0.03
p 3.0e-8
N 122,328
Meta-analysisLarge GWAS
multi-ancestry

About SERPINH1

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]

View all SERPINH1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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