rs10761779

This is a regulatory region variant variant in the JMJD1C gene.

GWAS Catalog Trait Associations (8)

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

sex hormone-binding globulin measurement

Allele G
OR 2.71
p 1.0e-62
N 104,632
Major Consortium StudyLarge GWAS
European

triglycerides to total lipids in very large HDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.03
p 3.0e-47
N 450,015
Large GWAS
multi-ancestry

prothrombin time measurement

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 0.05
p 1.0e-44
N 240,535
Major Consortium StudyLarge GWAS
multi-ancestry

alkaline phosphatase measurement

Allele A
OR 0.08
p 7.0e-33
N 38,000
Large GWAS
South Asian

platelet count

Allele A
OR 0.07
p 3.0e-28
N 38,000
Large GWAS
South Asian

alkaline phosphatase measurement, enzyme/coenzyme activity trait

Allele G
OR 0.03
p 7.0e-10
N 7,751
Large GWAS
multi-ancestry

triglyceride measurement

Kulminski AM et al. Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids. The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 75(10):1811-1819 (2020)
Allele G
OR 3.85
p 1.0e-8
N 29,902
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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