{{Rsnum
|rsid=140693
|Gene=MBD4
|Chromosome=3
|position=129436608
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1253
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MBD4
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 13.2 | 43.4 | 43.4
| JPT | 15.0 | 46.9 | 38.1
| YRI | 0.0 | 4.8 | 95.2
| ASW | 0.0 | 0.0 | 0.0
| CHB | 13.2 | 43.4 | 43.4
| CHD | 16.5 | 45.0 | 38.5
| GIH | 0.0 | 2.0 | 98.0
| LWK | 0.0 | 4.5 | 95.5
| MEX | 0.0 | 20.7 | 79.3
| MKK | 0.0 | 1.3 | 98.7
| TSI | 0.0 | 1.0 | 99.0
| HapMapRevision=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 Auto
|PMID=20100009
|Title=Single nucleotide polymorphism in the methyl-CpG binding domain 4 Gene and the risk for immune thrombocytopenic purpura in Chinese population
}}

{{PMID Auto
|PMID=21739480
|Title=Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis
}}

{{PMID|16465622|OA=1
}} 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
|gene=MBD4
|aa_change=Glu346Lys
|aa_change_short=E346K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs140693
|overall_frequency_n=116
|overall_frequency_d=10758
|overall_frequency=0.0107827
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=7
|n_articles=0
|n_articles_annotated=0
|nblosum100=0
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23027038
|Title=The MBD4 Glu346Lys polymorphism is associated with the risk of cervical cancer in a Chinese population.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}