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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
dbSNP (classic)rs3218695
ClinGenrs3218695
ebirs3218695
HLIrs3218695
Exacrs3218695
Gnomadrs3218695
Varsomers3218695
LitVarrs3218695
Maprs3218695
PheGenIrs3218695
Biobankrs3218695
1000 genomesrs3218695
hgdprs3218695
ensemblrs3218695
geneviewrs3218695
scholarrs3218695
googlers3218695
pharmgkbrs3218695
gwascentralrs3218695
openSNPrs3218695
23andMers3218695
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).



ClinVar
Risk rs3218695(A;A) rs3218695(T;T)
Alt rs3218695(A;A) rs3218695(T;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 UniProtKB (protein)
CLNACC RCV000120123.1, RCV000129054.4, RCV000206885.3, RCV000164658.1, RCV000435790.1,