rs3848519(A;C)

Likely to be a benign variant

Magnitude
1.0Minor
Repute
Not rated
Frequency
4%Average of 11 populations
On SNPedia
rs3848519(A;C)
Gene
FECH

Frequency

Share of people with A;C in each HapMap population.

  • Gujarati Indian10%
  • Mexican ancestry (Los Angeles)7%
  • Luhya (Kenya)5%
  • Han Chinese (Beijing)4%
  • Chinese (Denver)4%
  • Yoruba (Nigeria)3%
  • Tuscan3%
  • European ancestry (Utah)2%
  • Japanese (Tokyo)2%
  • African ancestry (Southwest US)2%
  • Maasai (Kenya)1%

Other genotypes of rs3848519

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

All about rs3848519

Notes

From SNPedia

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(A;C) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.