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rs3218695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs3218695(A;A)
Make rs3218695(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position108259051
GeneATM
is asnp
is mentioned by
dbSNPrs3218695
ebirs3218695
HLIrs3218695
Exacrs3218695
Varsomers3218695
Maprs3218695
PheGenIrs3218695
hapmaprs3218695
1000 genomesrs3218695
hgdprs3218695
ensemblrs3218695
gopubmedrs3218695
geneviewrs3218695
scholarrs3218695
googlers3218695
pharmgkbrs3218695
gwascentralrs3218695
openSNPrs3218695
23andMers3218695
23andMe allrs3218695
SNP Nexus

SNPshotrs3218695
SNPdbers3218695
MSV3drs3218695
GWAS Ctlgrs3218695
GMAF0.009183
Max Magnitude0
? (A;A) (A;C) (C;C) 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 (A).


GET Evidence
ATM-D814E
aa_change Asp814Glu
aa_change_short D814E
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.00623024
summary May be associated with an increased risk of breast cancer. If so, the size of the effect is unknown.



ClinVar
Risk rs3218695(A,T;A,T)
Alt rs3218695(A,T;A,T)
Reference rs3218695(C;C)
Significance Probable-non-pathogenic
Disease not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108129778C>A; NC_000011.9:g.108129778C>T
CLNSRC Ambry Genetics ClinVar GeneDx
CLNACC RCV000120123.1, RCV000129054.4, RCV000206885.2, RCV000164658.1,