rs7902343

This variant is located in the JMJD1C gene.

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GWAS Catalog Trait Associations (10)

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

level of sphingomyelin phosphodiesterase 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 T
OR 0.07
p 8.0e-46
N 47,745
Large GWAS
European

neutrophil count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele C
OR —
p 3.0e-26
N 234,802
Large GWAS
European

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 2.0e-21
N 239,268
Large GWAS
European

cathepsin F measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 1.0e-17
N 47,745
Large GWAS
European

blood protein amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 3.0e-14
N 47,745
Large GWAS
European

diastolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.16
p 1.0e-13
N 526,001
Large GWAS
European

low density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele C
OR —
β 0.024
p 4.0e-8
N 94,674
Large GWAS
multi-ancestry

triglyceride measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele C
OR —
β 0.036
p 4.0e-17
N 94,674
Large GWAS
multi-ancestry

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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