rs10761772
This is a intergenic variant variant in the JMJD1C gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
free cholesterol:total lipids ratio, intermediate density lipoprotein measurement
cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement
cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement
cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement
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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