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rs3218707

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs3218707(C;C)
Make rs3218707(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position108244000
GeneATM
is asnp
is mentioned by
dbSNPrs3218707
ebirs3218707
HLIrs3218707
Exacrs3218707
Varsomers3218707
Maprs3218707
PheGenIrs3218707
hapmaprs3218707
1000 genomesrs3218707
hgdprs3218707
ensemblrs3218707
gopubmedrs3218707
geneviewrs3218707
scholarrs3218707
googlers3218707
pharmgkbrs3218707
gwascentralrs3218707
openSNPrs3218707
23andMers3218707
23andMe allrs3218707
SNP Nexus

SNPshotrs3218707
SNPdbers3218707
MSV3drs3218707
GWAS Ctlgrs3218707
GMAF0.0124
Max Magnitude0
? (C;C) (C;G) (G;G) 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 (C).


GET Evidence
ATM-V182L
aa_change Val182Leu
aa_change_short V182L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00716146
summary



ClinVar
Risk rs3218707(C;C)
Alt rs3218707(C;C)
Reference rs3218707(G;G)
Significance Other
Disease Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome not provided
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000011.9:g.108114727G>C
CLNSRC Ambry Genetics ClinVar GeneDx Invitae
CLNACC RCV000119106.5, RCV000120166.2, RCV000131001.5, RCV000223988.1,