rs2272783

A SNP in the FECH gene on chromosome 18. Its most notable genotype is G;G: likely erythropoietic protoporphyria symptoms

Gene
FECH
Location
Chr 1857,571,588 (GRCh38)
Highest magnitude
4.0Very important
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
16%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBadlikely erythropoietic protoporphyria symptomsVery important · 4.04% of people
  2. A;GBadLow expression variant of FECH enzymeWorth knowing · 2.221% of people
  3. A;AGoodcommon in clinvarTypical · 0.075% of people

SNPedia records rs2272783 on the minus strand: (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 11 HapMap populations.

  • AverageG;G 4% A;G 21% A;A 75%
  • European ancestry (Utah)G;G <1% A;G 11% A;A 88%
  • Han Chinese (Beijing)G;G 10% A;G 41% A;A 50%
  • Japanese (Tokyo)G;G 16% A;G 51% A;A 33%
  • Yoruba (Nigeria)G;G 0% A;G 2% A;A 98%
  • African ancestry (Southwest US)G;G 0% A;G 4% A;A 97%
  • Chinese (Denver)G;G 6% A;G 44% A;A 50%
  • Gujarati IndianG;G 1% A;G 16% A;A 83%
  • Luhya (Kenya)G;G 0% A;G 6% A;A 95%
  • Mexican ancestry (Los Angeles)G;G 10% A;G 45% A;A 45%
  • Maasai (Kenya)G;G 0% A;G 3% A;A 97%
  • TuscanG;G 0% A;G 5% A;A 95%

Conditions, medicines and genes

Other FECH SNPs

All FECH SNPs

Notes

From SNPedia

Notes

rs2272783, also known as IVS3-48T-C, is a mutation in the ferrochelatase FECH gene leading to lowered expression of that enzyme. When coupled in trans with a nonfunctional FECH allele, this is likely to lead to erythropoietic protoporphyria. See also: OMIM 612386.0015

A;G

If your other FECH allele is normal, you are most likely asymptomatic. However, if you harbor this rs2272783(C;T) genotype AND your other FECH allele is actually nonfunctional, you are likely to have symptoms associated with Erythropoietic protoporphyria.

Source and license

Adapted from rs2272783 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.