rs1047031

A SNP in the DEFB1 gene on chromosome 8. Its most notable genotype is T;T: 1.3x increased risk for periodontitis

Gene
DEFB1
Location
Chr 86,870,676 (GRCh38)
Highest magnitude
1.3Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
21%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBad1.3x increased risk for periodontitisMinor · 1.35% of people
  2. C;TGoodnormalTypical · 0.530% of people
  3. C;CGoodnormalTypical · 0.065% of people

SNPedia records rs1047031 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 9 HapMap populations.

  • AverageT;T 5% C;T 30% C;C 65%
  • European ancestry (Utah)T;T <1% C;T 27% C;C 73%
  • Han Chinese (Beijing)T;T 14% C;T 48% C;C 38%
  • Japanese (Tokyo)T;T 8% C;T 50% C;C 42%
  • Yoruba (Nigeria)T;T 0% C;T 0% C;C 100%
  • African ancestry (Southwest US)T;T 0% C;T 7% C;C 93%
  • Chinese (Denver)T;T 13% C;T 46% C;C 41%
  • Gujarati IndianT;T 5% C;T 34% C;C 61%
  • Mexican ancestry (Los Angeles)T;T 5% C;T 45% C;C 50%
  • TuscanT;T 2% C;T 15% C;C 83%

Conditions, medicines and genes

Other DEFB1 SNPs

All DEFB1 SNPs

Notes

From SNPedia

Notes

rs1047031 is a SNP in the 3' untranslated region of the beta 1 defensin DEFB1 gene. Using 1,337 cases and 2,887 ethnically matched controls,a study has found that rs1047031(A;A) homozygotes have an increased risk for periodontitis, with an odds ratio of 1.3 (CI: 1.11-1.57, p=0.002). The association was increased specifically for chronic periodontitis (odds ratio 2.2, CI:1.16-4.35, p=0.02), and aggressive periodontitis (odds ratio 1.3, CI:1.04-1.68, p=0.02).

Source and license

Adapted from rs1047031 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.