rs140693

A SNP in the MBD4 gene on chromosome 3. Its most notable genotype is C;C: common in complete genomics

Gene
MBD4
Location
Chr 3129,436,608 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
13%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodcommon in complete genomicsTypical · 0.079% of people

SNPedia records rs140693 on the minus strand: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 10 HapMap populations.

  • AverageC;C 79%
  • European ancestry (Utah)C;C 100%
  • Han Chinese (Beijing)C;C 43%
  • Japanese (Tokyo)C;C 38%
  • Yoruba (Nigeria)C;C 95%
  • Chinese (Denver)C;C 39%
  • Gujarati IndianC;C 98%
  • Luhya (Kenya)C;C 96%
  • Mexican ancestry (Los Angeles)C;C 79%
  • Maasai (Kenya)C;C 99%
  • TuscanC;C 99%

Notes

From SNPedia

Notes

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) Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. Peptidylarginine deiminase type 4 and methyl-CpG binding domain 4 polymorphisms in Chinese patients with rheumatoid arthritis.

Source and license

Adapted from rs140693 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.