rs2233580

A SNP in the PAX4 gene on chromosome 7. Its most notable genotype is C;T: Reported to slightly increase (1.5x) risk for T2D in Asians

Gene
PAX4
Location
Chr 7127,613,496 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadReported to slightly increase (1.5x) risk for T2D in AsiansMinor · 1.510% of people
  2. C;CGoodcommon in clinvarTypical · 0.089% of people

SNPedia records rs2233580 on the minus strand: (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 5 HapMap populations.

  • AverageC;T 10% C;C 89%
  • European ancestry (Utah)C;T 0% C;C 100%
  • Han Chinese (Beijing)C;T 14% C;C 85%
  • Japanese (Tokyo)C;T 16% C;C 82%
  • Yoruba (Nigeria)C;T 0% C;C 100%
  • Chinese (Denver)C;T 19% C;C 79%

Conditions, medicines and genes

Other PAX4 SNPs

All PAX4 SNPs

Notes

From SNPedia

Notes

Single-variant testing of ~12,000 patients with exome and WGS data from type-2 diabetes patients yielded only a single significant result, (PAX4 p.Arg192His or c.575G>A, a.k.a. rs2233580) that was only observed in East Asian individuals. Blog post about this here. A GWAS of ~1000 East Asians (Koreans) concluded that the PAX4 Arg192His variant increased risk for type-2 diabetes (OR 1.48, p = 4.47 × 10e-16).

C;T

see text via main rs-page

Source and license

Adapted from rs2233580 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.