rs10740118

This variant is located in the JMJD1C gene.

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GWAS Catalog Trait Associations (12)

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

platelet component distribution width

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.05
p 3.0e-51
N 164,433
Large GWAS
European

level of tripeptidyl-peptidase 1 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 C
OR 0.07
p 2.0e-34
N 47,745
Large GWAS
European

thrombopoietin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.06
p 6.0e-31
N 47,745
Large GWAS
European

mitochondrial DNA measurement

Hägg S et al. “Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.” Human Genetics 140(6):849-861 (2021)
Allele C
OR 0.03
p 5.0e-25
N 295,150
Large GWAS
European

vascular endothelial growth factor A level

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.13
p 5.0e-21
N 10,708
Large GWAS
European

level of quinone oxidoreductase PIG3 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 C
OR 0.04
p 6.0e-16
N 47,745
Large GWAS
European

level of uroporphyrinogen decarboxylase 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 C
OR 0.04
p 4.0e-14
N 47,745
Large GWAS
European

platelet volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR 0.11
p 5.0e-14
N 10,737
Large GWAS
African American or Afro-Caribbean, African unspecified

annexin A6 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.09
p 4.0e-13
N 10,708
Large GWAS
European

gastrin-releasing peptide measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.10
p 2.0e-12
N 10,708
Large GWAS
European

About JMJD1C

The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

View all JMJD1C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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