rs634552

This is a intron variant variant in the SERPINH1 gene.

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GWAS Catalog Trait Associations (2)

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

level of serpin H1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.09
p 1.0e-26
N 47,745
Large GWAS
European

body height

Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)
Allele T
OR —
β 0.039
p 4.0e-13
N 133,653
Large GWAS
European
Graff M et al. “Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.” American Journal of Human Genetics 108(4):564-582 (2021)
Allele T
OR 0.06
p 4.0e-15
N 41,389
Large GWAS
multi-ancestry
Nagy R et al. “Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.” Genome Medicine 9(1):23 (2017)
Allele T
OR 0.01
p 2.0e-8
N 26,828
Major Consortium StudyLarge GWAS
European

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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