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rs2981745

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal
(C;T) 1.6 1.6x increased risk for breast cancer in females over 60
(T;T) 1.6 >1.6x increased risk for breast cancer in females over 60
ReferenceGRCh38 38.1/142
Chromosome10
Position122560678
GeneDMBT1
is asnp
is mentioned by
dbSNPrs2981745
dbSNP (classic)rs2981745
ClinGenrs2981745
ebirs2981745
HLIrs2981745
Exacrs2981745
Gnomadrs2981745
Varsomers2981745
LitVarrs2981745
Maprs2981745
PheGenIrs2981745
Biobankrs2981745
1000 genomesrs2981745
hgdprs2981745
ensemblrs2981745
geneviewrs2981745
scholarrs2981745
googlers2981745
pharmgkbrs2981745
gwascentralrs2981745
openSNPrs2981745
23andMers2981745
SNPshotrs2981745
SNPdbers2981745
MSV3drs2981745
GWAS Ctlgrs2981745
GMAF0.3127
Max Magnitude1.6

rs2981745, also known as -93C>T, is a SNP in a gene known as Deleted in Malignant Brain Tumors 1 DMBT1. The (overly descriptive?) name refers to the hypothesis that this gene has a role as a tumor suppressor.

A study of 1,195 BRCA1/2 mutation negative German breast cancer families and 1,466 unrelated German controls concluded that rs2981745(T) carriers over the age of 60 are at increased risk for breast cancer, with an odds ratio of 1.66 (CI: 1.21-2.29, p=0.0017).[PMID 19830809]

rs2981745 was also said to be tightly linked to rs11523871, which showed the same odds ratios in this study.[PMID 19830809]


[PMID 23107584OA-icon.png] Identifying breast cancer risk loci by global differential allele-specific expression (DASE) analysis in mammary epithelial transcriptome