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rs1800058

来自SNPedia
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Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 1.05 very slightly increased risk (1.05) for breast cancer
(T;T) 1.5 1.5x increased risk for breast cancer
ReferenceGRCh38 38.1/141
Chromosome11
Position108289623
GeneATM
is asnp
is mentioned by
dbSNPrs1800058
ebirs1800058
HLIrs1800058
Exacrs1800058
Varsomers1800058
Maprs1800058
PheGenIrs1800058
hapmaprs1800058
1000 genomesrs1800058
hgdprs1800058
ensemblrs1800058
gopubmedrs1800058
geneviewrs1800058
scholarrs1800058
googlers1800058
pharmgkbrs1800058
gwascentralrs1800058
openSNPrs1800058
23andMers1800058
23andMe allrs1800058
SNP Nexus

SNPshotrs1800058
SNPdbers1800058
MSV3drs1800058
GWAS Ctlgrs1800058
GMAF0.009183
Max Magnitude1.5
? (C;C) (C;T) (T;T) 28

This SNP, also known as L1420F, 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 (T).

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 20826828OA-icon.png]

Neighborrs3092856
Distance618
[PMID 17132159OA-icon.png] 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 17431766] Two-stage case-control study of common ATM gene variants in relation to breast cancer risk.

[PMID 17623063OA-icon.png] 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 18701470OA-icon.png] Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.


ClinVar
Risk rs1800058(T;T)
Alt rs1800058(T;T)
Reference rs1800058(C;C)
Significance Other
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.108160350C>T
CLNSRC Ambry Genetics ClinVar GeneDx University of Chicago Invitae
CLNACC RCV000116425.3, RCV000119139.5, RCV000130979.5,