rs2227928

This is a variant in the ATR gene that changes a methionine to an threonine.

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GWAS Catalog Trait Associations (3)

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

erythrocyte volume

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.07

p 5.0e-101

N 583,955

Major Consortium StudyLarge GWAS

multi-ancestry

mean corpuscular hemoglobin concentration

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.07

p 5.0e-93

N 583,865

Major Consortium StudyLarge GWAS

multi-ancestry

mean corpuscular hemoglobin

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.05

p 1.0e-47

N 128,028

Large GWAS

East Asian

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ClinVar annotation

Likely Benign★★★☆

10 submitters4 publications

Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome; Seckel syndrome 1 (SCKL1); not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Potentially functional polymorphisms in DNA repair genes and non‐small‐cell lung cancer survival: A pathway‐based analysis

AssociationN=568Jing Dong et al.(2012)· Molecular Carcinogenesis

A pathway-based candidate gene association study of 218 SNPs in 50 DNA repair genes on non-small-cell lung cancer (NSCLC) survival in 568 Chinese patients. Six SNPs remained significant in multivariate analysis: ATM rs189037 (HR=1.40, p=0.011), MRE11A rs11020802 (HR=1.35, p=0.007), ERCC2 rs1799793 (HR=1.56, p=0.009), MBD4 rs140693 (HR=0.49, p=0.001), XRCC1 rs25487 (HR=1.66, p=0.001), and PMS1 rs5742933 (HR=1.89, p=0.011). In advanced patients treated with platinum-based chemotherapy, ERCC1 rs11615 and XPC rs2228000 were associated with survival.

Traits studied:Non-small-cell lung cancer survivalPlatinum-based chemotherapy response

PubMed DOI Metascience Observatory

About ATR

The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]