rs7098181

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

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GWAS Catalog Trait Associations (7)

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

platelet-to-lymphocyte ratio

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 G
OR —
p 4.0e-117
N 234,552
Large GWAS
European

platelet volume

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 G
OR 0.12
p 5.0e-105
N 97,007
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

level of C-X-C motif chemokine 3 in blood serum

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 7.0e-28
N 47,745
Large GWAS
European

level of liver carboxylesterase 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 T
OR 0.05
p 2.0e-23
N 47,745
Large GWAS
European

inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.11
p 3.0e-17
N 10,708
Large GWAS
European

platelet count

Burley K et al. “PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry.” Research and Practice in Thrombosis and Haemostasis 7(4):100175 (2023)
Allele G
OR 0.09
p 3.0e-17
N 20,218
Large GWAS
South Asian

thrombocytopenia 4

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 G
OR 0.08
p 4.0e-15
N 614,191
Major Consortium StudyLarge 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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