rs5743289

A SNP in the NOD2 gene on chromosome 16. Its most notable genotype is C;T: Perhaps increased risk for certain autoinflammatory disorders

Gene
NOD2
Location
Chr 1650,722,863 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
8%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon on affy axiom dataTypical · 0.088% of people
  2. C;TMost notableBadPerhaps increased risk for certain autoinflammatory disordersMinor · 1.012% of people
  3. T;TBadPerhaps increased risk for certain autoinflammatory disordersMinor · 1.0<1% of people

On SNPedia: (C;C), (C;T), (T;T). 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 88% C;T 12% T;T <1%
  • European ancestry (Utah)C;C 58% C;T 40% T;T 3%
  • Han Chinese (Beijing)C;C 100% C;T 0% T;T 0%
  • Japanese (Tokyo)C;C 100% C;T 0% T;T 0%
  • Yoruba (Nigeria)C;C 100% C;T 0% T;T 0%
  • African ancestry (Southwest US)C;C 90% C;T 7% T;T 4%
  • Gujarati IndianC;C 99% C;T 1% T;T 0%
  • Luhya (Kenya)C;C 97% C;T 3% T;T 0%
  • Mexican ancestry (Los Angeles)C;C 78% C;T 22% T;T 0%
  • Maasai (Kenya)C;C 87% C;T 13% T;T <1%
  • TuscanC;C 69% C;T 29% T;T 2%

Other NOD2 SNPs

All NOD2 SNPs

Notes

From SNPedia

Notes

aka c.2798+158C>T This quite common variant has been linked to several autoinflammatory disorders, but it appears to be quite a complex interaction that is still not well understood (and only affects a small fraction of the people who carry it anyway). OMIM provides the best summary of the findings to date.

C;T

see text and links via main rs-page

T;T

see text and links via main rs-page

Source and license

Adapted from rs5743289 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.