rs5030849(C;G)

Carrier of a phenylketonuria mutation

Magnitude
3.0Important
Repute
Bad
Frequency
0%Average of 4 populations
On SNPedia
rs5030849(C;G)Minus strand
Gene
PAH

Frequency

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

  • European ancestry (Utah)0%
  • Han Chinese (Beijing)0%
  • Japanese (Tokyo)0%
  • Yoruba (Nigeria)0%

Other genotypes of rs5030849

  1. T;TMost notableBadPHENYLKETONURIA, MILDVery important · 6.00% of people
  2. C;TBadCarrier of a phenylketonuria mutationImportant · 3.00% of people
  3. C;CGoodcommon in clinvarTypical · 0.0100% of people

All about rs5030849

Notes

From SNPedia

Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.

Source and license

Adapted from rs5030849(C;G) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.