rs12735723

A SNP in the PPOX gene on chromosome 1. Its most notable genotype is G;G: Variegate porphyria

Gene
PPOX
Location
Chr 1161,169,143 (GRCh38)
Highest magnitude
3.5Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.098% of people
  2. C;GBadVariegate porphyria carrierImportant · 3.02% of people
  3. G;GMost notableBadVariegate porphyriaImportant · 3.50% of people

On SNPedia: (C;C), (C;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 4 HapMap populations.

  • AverageC;C 98% C;G 2% G;G 0%
  • European ancestry (Utah)C;C 94% C;G 6% G;G 0%
  • Han Chinese (Beijing)C;C 100% C;G 0% G;G 0%
  • Japanese (Tokyo)C;C 100% C;G 0% G;G 0%
  • Yoruba (Nigeria)C;C 100% C;G 0% G;G 0%

Other PPOX SNPs

All PPOX SNPs

Notes

From SNPedia

Notes

C;C

appears to be common on the 23andMe platform

Source and license

Adapted from rs12735723 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.