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rs3092856

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs3092856(C;T)
Make rs3092856(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position108289005
GeneATM
is asnp
is mentioned by
dbSNPrs3092856
ebirs3092856
HLIrs3092856
Exacrs3092856
Varsomers3092856
Maprs3092856
PheGenIrs3092856
hapmaprs3092856
1000 genomesrs3092856
hgdprs3092856
ensemblrs3092856
gopubmedrs3092856
geneviewrs3092856
scholarrs3092856
googlers3092856
pharmgkbrs3092856
gwascentralrs3092856
openSNPrs3092856
23andMers3092856
23andMe allrs3092856
SNP Nexus

SNPshotrs3092856
SNPdbers3092856
MSV3drs3092856
GWAS Ctlgrs3092856
GMAF0.01974
Max Magnitude0
? (C;C) (C;T) (T;T) 28

This SNP, 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).

Neighborrs1800058
Distance618


[PMID 20232390] Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia


[PMID 18638378OA-icon.png] Analysis of variants in DNA damage signalling genes in bladder cancer.


GET Evidence
ATM-H1380Y
aa_change His1380Tyr
aa_change_short H1380Y
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.026125
summary



ClinVar
Risk rs3092856(T;T)
Alt rs3092856(T;T)
Reference rs3092856(C;C)
Significance Non-pathogenic
Disease not specified Hereditary cancer-predisposing syndrome
Variation info
Gene ATM
CLNDBN not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.108159732C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000120137.1, RCV000128897.2,