rs3848519

A SNP in the FECH gene on chromosome 18. Its most notable genotype is A;A: likely to be a benign variant

Gene
FECH
Location
Chr 1857,580,104 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
2%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableNot ratedlikely to be a benign variantMinor · 1.00% of people
  2. A;CNot ratedlikely to be a benign variantMinor · 1.04% of people
  3. C;CGoodcommon in complete genomicsTypical · 0.096% of people

On SNPedia: (A;A), (A;C), (C;C). 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.

  • AverageA;A 0% A;C 4% C;C 96%
  • European ancestry (Utah)A;A 0% A;C 2% C;C 98%
  • Han Chinese (Beijing)A;A 0% A;C 4% C;C 96%
  • Japanese (Tokyo)A;A 0% A;C 2% C;C 98%
  • Yoruba (Nigeria)A;A 0% A;C 3% C;C 97%
  • African ancestry (Southwest US)A;A 0% A;C 2% C;C 98%
  • Chinese (Denver)A;A 0% A;C 4% C;C 96%
  • Gujarati IndianA;A 0% A;C 10% C;C 90%
  • Luhya (Kenya)A;A 0% A;C 5% C;C 95%
  • Mexican ancestry (Los Angeles)A;A 0% A;C 7% C;C 93%
  • Maasai (Kenya)A;A 0% A;C 1% C;C 99%
  • TuscanA;A 0% A;C 3% C;C 97%

Notes

From SNPedia

Show notes, about 120 words

aka c.163G>T (p.Gly55Cys) Originally reported in OMIM and therefore ClinVar as a recessive variant for erythropoietic protoporphyria, but now considered to be benign or likely benign (in large part because it's seen more frequently than would be expected for a mutation of this type and because the change at the protein level is not considered that impactful).

A;C

aka c.163G>T (p.Gly55Cys) Originally reported in OMIM and therefore ClinVar as a recessive variant for erythropoietic protoporphyria, but now considered to be benign or likely benign (in large part because it's seen more frequently than would be expected for a mutation of this type and because the change at the protein level is not considered that impactful).

Source and license

Adapted from rs3848519 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.