rs7084707

This is a intron variant variant in the JMJD1C gene.

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GWAS Catalog Trait Associations (5)

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

platelet 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-139
N 235,256
Large GWAS
European

platelet volume

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele T
OR 0.15
p 5.0e-122
N 71,605
Large GWAS
East Asian

nidogen-2 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 0.08
p 2.0e-65
N 47,745
Large GWAS
European

spermidine measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.15
p 1.0e-12
N 6,136
Large GWAS
European

beta-citrylglutamate measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.13
p 2.0e-11
N 6,136
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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