rs246196

This is a intron variant variant in the CNOT1 gene.

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GWAS Catalog Trait Associations (1)

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

QT interval

Arking DE et al. “Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.” Nature Genetics 46(8):826-36 (2014)

Allele C

OR 1.73

p 2.0e-57

N 71,061

Large GWAS

European

About CNOT1

Enables armadillo repeat domain binding activity; molecular adaptor activity; and nuclear receptor binding activity. Contributes to poly(A)-specific ribonuclease activity. Involved in several processes, including negative regulation of intracellular signal transduction; positive regulation of cytoplasmic mRNA processing body assembly; and regulation of gene expression. Located in P-body and cytosol. Part of CCR4-NOT complex. Implicated in Vissers-Bodmer syndrome and holoprosencephaly 12. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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