rs1800057
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;G) | 1.05 | very slightly increased risk (1.05) for breast cancer |
| (G;G) | 1.5 | very slightly increased breast cancer risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 108272729 |
| Gene | ATM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800057 |
| dbSNP (classic) | rs1800057 |
| ClinGen | rs1800057 |
| ebi | rs1800057 |
| HLI | rs1800057 |
| Exac | rs1800057 |
| Gnomad | rs1800057 |
| Varsome | rs1800057 |
| LitVar | rs1800057 |
| Map | rs1800057 |
| PheGenI | rs1800057 |
| Biobank | rs1800057 |
| 1000 genomes | rs1800057 |
| hgdp | rs1800057 |
| ensembl | rs1800057 |
| geneview | rs1800057 |
| scholar | rs1800057 |
| rs1800057 | |
| pharmgkb | rs1800057 |
| gwascentral | rs1800057 |
| openSNP | rs1800057 |
| 23andMe | rs1800057 |
| SNPshot | rs1800057 |
| SNPdbe | rs1800057 |
| MSV3d | rs1800057 |
| GWAS Ctlg | rs1800057 |
| GMAF | 0.01515 |
| Max Magnitude | 1.5 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
This SNP, also known as P1054R, a variant in the ATM gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]
For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.
For this particular SNP, the risk (minor) allele is (G).
Another large meta-analysis published in 2011, comprising 26,000+ breast cancer cases and almost 30,000 controls from 23 studies in the Breast Cancer Association Consortium, found average odds ratios of 1.05 for heterozygotes and 1.51 for homozygotes of each of 5 ATM gene SNPs, of which this is one.[PMID 20826828
]
[PMID 22438227] Functional Variations in the ATM Gene and Susceptibility to Differentiated Thyroid Carcinoma
[PMID 17132159] Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.
[PMID 17623063] Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence.
[PMID 18701470] Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
[PMID 19348699] Variants in the ATM gene and breast cancer susceptibility.
[PMID 19638463] Sequence variant discovery in DNA repair genes from radiosensitive and radiotolerant prostate brachytherapy patients.
[PMID 23936089] Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies
| ClinVar | |
|---|---|
| Risk | rs1800057(A;A) Rs1800057(G;G) |
| Alt | rs1800057(A;A) Rs1800057(G;G) |
| Reference | Rs1800057(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | ATM |
| CLNDBN | not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.108143456C>A; NC_000011.9:g.108143456C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000479904.1, RCV000119124.3, RCV000120131.3, RCV000130988.3, |
[PMID 26974709] Polymorphisms in double strand break repair related genes influence radiosensitivity phenotype in lymphocytes from healthy individuals.
