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rs3013236

From SNPedia

Orientationplus
Stabilizedplus
Make rs3013236(C;C)
Make rs3013236(C;T)
Make rs3013236(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position122570911
GeneDMBT1
is asnp
is mentioned by
dbSNPrs3013236
ebirs3013236
HLIrs3013236
Exacrs3013236
Varsomers3013236
Maprs3013236
PheGenIrs3013236
hapmaprs3013236
1000 genomesrs3013236
hgdprs3013236
ensemblrs3013236
gopubmedrs3013236
geneviewrs3013236
scholarrs3013236
googlers3013236
pharmgkbrs3013236
gwascentralrs3013236
openSNPrs3013236
23andMers3013236
23andMe allrs3013236
SNP Nexus

SNPshotrs3013236
SNPdbers3013236
MSV3drs3013236
GWAS Ctlgrs3013236
GMAF0.3017
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene DMBT1
allele T
frequency
sift
HuRef 1103694078117
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.



Neighborrs11523871
Distance717
[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.


GET Evidence
DMBT1-S54L
aa_change Ser54Leu
aa_change_short S54L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.67644
summary