rs34593439

This is a intron variant variant in the CTSH gene.

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GWAS Catalog Trait Associations (9)

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

cathepsin H measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 1.150
p 3.0e-241
N 3,301
Large GWAS
European

C-type lectin domain family 4 member K amount

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 0.07
p 7.0e-21
N 47,745
Large GWAS
European

monocyte measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.09
p 2.0e-16
N 39,586
Large GWAS
European

autoimmune disease

Márquez A et al. “Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.” Genome Medicine 10(1):97 (2018)
Allele A
OR —
p 1.0e-14
N 59,468
Meta-analysisLarge GWAS
European

type 1 diabetes mellitus

Onengut-Gumuscu S et al. “Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.” Nature Genetics 47(4):381-6 (2015)
Allele G
OR 1.28
p 9.0e-14
N 21,526
Large GWAS
European

complement C1q tumor necrosis factor-related protein 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.16
p 2.0e-12
N 10,708
Large GWAS
European

narcolepsy-cataplexy syndrome

Ollila HM et al. “Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.” Nature Communications 14(1):2709 (2023)
Allele A
OR 0.23
p 8.0e-11
N 90,929
Large GWAS
multi-ancestry

aspartate aminotransferase 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 A
OR 0.03
p 1.0e-10
N 354,541
Major Consortium StudyLarge GWAS
multi-ancestry

About CTSH

The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

View all CTSH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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