rs61612408

This variant is located in the CHEK1 gene.

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GWAS Catalog Trait Associations (1)

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

lung cancer, family history of lung cancer

Gabriel AAG et al. “Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden.” Journal of the National Cancer Institute 114(8):1159-1166 (2022)

Allele A

OR 0.90

p 3.0e-8

N 329,946

Large GWAS

European

About CHEK1

The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]

View all CHEK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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