rs37060

This is a splice region 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.

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.15
p 2.0e-14
N 1,028,980
Large GWAS
multi-ancestry
Evangelou E et al. “Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.” Nature Genetics 50(10):1412-1425 (2018)
Allele A
OR 0.15
p 1.0e-13
N 757,601
Large GWAS
European
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ClinVar annotation

Benign★★★☆
4 submitters2 publications

Holoprosencephaly 12 with or without pancreatic agenesis; Vissers-Bodmer syndrome

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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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