Have questions? Visit https://www.reddit.com/r/SNPedia

rs11523871

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) normal
(A;C) 1.6 1.6x increased breast cancer risk for women over 60
(C;C) 1.6 >1.6x increased breast cancer risk for women over 60
ReferenceGRCh38 38.1/142
Chromosome10
Position122570194
GeneDMBT1
is asnp
is mentioned by
dbSNPrs11523871
ebirs11523871
HLIrs11523871
Exacrs11523871
Varsomers11523871
Maprs11523871
PheGenIrs11523871
hapmaprs11523871
1000 genomesrs11523871
hgdprs11523871
ensemblrs11523871
gopubmedrs11523871
geneviewrs11523871
scholarrs11523871
googlers11523871
pharmgkbrs11523871
gwascentralrs11523871
openSNPrs11523871
23andMers11523871
23andMe allrs11523871
SNP Nexus

SNPshotrs11523871
SNPdbers11523871
MSV3drs11523871
GWAS Ctlgrs11523871
GMAF0.3007
Max Magnitude1.6
? (A;A) (A;C) (C;C) 28
rs11523871, also known as 124A>C or Thr42Pro, is a SNP in the Deleted in Malignant Brain Tumors 1 DMBT1 gene.

For more information about increased breast cancer risk for this SNP, see the SNPedia entry for rs2981745, to which it is tightly linked.[PMID 19830809]


Venter snp
Source plos
Gene DMBT1
allele A
frequency
sift
HuRef 1103694078106
Disease Association Inactivation of DMBT1 plays an important role in carcinogenesis. A loss or reduction of DMBT1 expression was seen in esophageal, gastric, lung and colorectal carcinomas. Deleted in medulloblastoma and glioblastoma cell lines. Homozygous deletions may be the predominant mechanism of inactivation.



Neighborrs3013236
Distance717


GET Evidence
DMBT1-P42T
aa_change Pro42Thr
aa_change_short P42T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.675991
summary