rs189037
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs189037(A;A) |
| Make rs189037(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 108223106 |
| Gene | ATM, NPAT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs189037 |
| dbSNP (classic) | rs189037 |
| ClinGen | rs189037 |
| ebi | rs189037 |
| HLI | rs189037 |
| Exac | rs189037 |
| Gnomad | rs189037 |
| Varsome | rs189037 |
| LitVar | rs189037 |
| Map | rs189037 |
| PheGenI | rs189037 |
| Biobank | rs189037 |
| 1000 genomes | rs189037 |
| hgdp | rs189037 |
| ensembl | rs189037 |
| geneview | rs189037 |
| scholar | rs189037 |
| rs189037 | |
| pharmgkb | rs189037 |
| gwascentral | rs189037 |
| openSNP | rs189037 |
| 23andMe | rs189037 |
| SNPshot | rs189037 |
| SNPdbe | rs189037 |
| MSV3d | rs189037 |
| GWAS Ctlg | rs189037 |
| GMAF | 0.4853 |
| Max Magnitude | 0 |
[PMID 19193393] reduced cytokinesis-block micronucleus (CBMN) frequency among workers exposed to polycyclic aromatic hydrocarbons
[PMID 21187516] Association between Ataxia Telangiectasia Mutated Gene Polymorphisms and Breast Cancer in Taiwanese Females
[PMID 21739480] Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis
[PMID 22126766] [Association between single nucleotide polymorphism locus rs189037 in the promoter of ATM gene and nasopharyngeal carcinoma susceptibility in Cantonese]
[PMID 21050672] Genetic variants of NPAT-ATM and AURKA are associated with an early adverse reaction in the gastrointestinal tract of patients with cervical cancer treated with pelvic radiation therapy
[PMID 22229509] Association between Ataxia Telangiectasia Mutated Gene Polymorphisms and Childhood Leukemia in Taiwan
[PMID 22438227
] Functional Variations in the ATM Gene and Susceptibility to Differentiated Thyroid Carcinoma
[PMID 17428325] Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.
[PMID 20004998] ATM polymorphisms and risk of lung cancer among never smokers.
[PMID 20816691] A functional single nucleotide polymorphism in promoter of ATM is associated with longevity.
[PMID 21108427] Association between DNA repair gene ATM polymorphisms and oral cancer susceptibility.
[PMID 21937043] Functional polymorphism rs189037 in the promoter region of ATM gene is associated with angiographically characterized coronary stenosis.
[PMID 23925578] Association of the ATM gene polymorphisms with papillary thyroid cancer
[PMID 24023351] Effects of Ataxia Telangiectasia Mutated (ATM) Genotypes and Smoking Habits on Lung Cancer Risk in Taiwan
[PMID 22960875] Ataxia-telangiectasia mutated (ATM) genetic variant in Italian centenarians.
[PMID 23154078] ATM polymorphisms predict severe radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy.
[PMID 25196645] Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma
[PMID 25759145] ATM Gene Single-Nucleotide Polymorphisms Predict Regimen-Related Gastrointestinal Toxicity in Patients Allografted after Reduced Conditionings
[PMID 26504743] ATM rs189037 (G > A) polymorphism and risk of lung cancer and head and neck cancer: A meta-analysis
[PMID 26629166] Single-nucleotide polymorphisms of TGFβ1 and ATM associated with radiation-induced pneumonitis: a prospective cohort study of thoracic cancer patients in China.
| ClinVar | |
|---|---|
| Risk | rs189037(A;A) |
| Alt | rs189037(A;A) |
| Reference | Rs189037(G;G) |
| Significance | Non-pathogenic |
| Disease | Ataxia-telangiectasia syndrome |
| Variation | info |
| Gene | ATM NPAT |
| CLNDBN | Ataxia-telangiectasia syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.108093833G>A |
| CLNSRC | |
| CLNACC | RCV000304644.1, |
[PMID 28806901] Polymorphism rs189037C > T in the promoter region of the ATM gene may associate with reduced risk of T2DM in older adults in China: a case control study.
[PMID 29369221] The association of single nucleotide polymorphism rs189037C>T in ATM gene with coronary artery disease in Chinese Han populations: A case control study.
[PMID 29714915] [Research on Association between Ataxia Telangiectasia Mutated(ATM)Gene Single Nucleotide Polymorphism Rs189037 C>T and Essential Hypertension].
[PMID 30709340] ATM rs189037 (G > A) polymorphism increased the risk of cancer: an updated meta-analysis.
