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rs140693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs140693(A;A)
Make rs140693(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position129436608
GeneMBD4
is asnp
is mentioned by
dbSNPrs140693
ebirs140693
HLIrs140693
Exacrs140693
Varsomers140693
Maprs140693
PheGenIrs140693
hapmaprs140693
1000 genomesrs140693
hgdprs140693
ensemblrs140693
gopubmedrs140693
geneviewrs140693
scholarrs140693
googlers140693
pharmgkbrs140693
gwascentralrs140693
openSNPrs140693
23andMers140693
23andMe allrs140693
SNP Nexus

SNPshotrs140693
SNPdbers140693
MSV3drs140693
GWAS Ctlgrs140693
GMAF0.1253
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 18495292] We observed a significantly decreased risk of lung cancer associated with the

  • rs140693(A;G) genotype (adjusted OR=0.70, 95% CI=0.52-0.93),
  • and the combined rs140693 GA/AA variant genotypes (adjusted OR=0.76, 95% CI=0.58-1.00),
  • compared with the wild-type homozygote rs140693 GG. The reduced lung cancer risk in non-smokers carrying rs140693 GA/AA genotypes was more predominant (adjusted OR=0.56, 95% CI=0.35-0.87)


[PMID 20100009] Single nucleotide polymorphism in the methyl-CpG binding domain 4 Gene and the risk for immune thrombocytopenic purpura in Chinese population


[PMID 21739480] Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis

[PMID 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 22505706] Peptidylarginine deiminase type 4 and methyl-CpG binding domain 4 polymorphisms in Chinese patients with rheumatoid arthritis.


GET Evidence
MBD4-E346K
aa_change Glu346Lys
aa_change_short E346K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0107827
summary



[PMID 23027038] The MBD4 Glu346Lys polymorphism is associated with the risk of cervical cancer in a Chinese population.