rs9790517

This is a intron variant variant in the TET2 gene.

GWAS Catalog Trait Associations (1)

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

breast carcinoma

Michailidou K et al. Association analysis identifies 65 new breast cancer risk loci. Nature 551(7678):92-94 (2017)
Allele T
OR 1.04
p 5.0e-11
N 139,274
Large GWAS
multi-ancestry
Allele T
OR 1.04
p 2.0e-9
N 277,932
Large GWAS
multi-ancestry
Allele T
OR 1.05
p 1.0e-9
N 33,832
Large GWAS
European
Michailidou K et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nature Genetics 45(4):353-61, 361e1-2 (2013)
Allele T
OR 1.05
p 4.0e-8
N 22,627
Large GWAS
European

About TET2

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

View all TET2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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