rs2230288(C;T)

E326K variant in GBA gene

Magnitude
0.5Typical
Repute
Not rated
Frequency
2%Average of 5 populations
On SNPedia
rs2230288(A;G)Minus strand
Gene
GBA

Frequency

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

  • European ancestry (Utah)4%
  • Tuscan3%
  • Han Chinese (Beijing)<1%
  • Japanese (Tokyo)0%
  • Yoruba (Nigeria)0%

Other genotypes of rs2230288

  1. T;TMost notableNot ratedHomozygous for E326K variant of GBA geneMinor · 1.00% of people
  2. C;CGoodcommon in clinvarTypical · 0.098% of people

All about rs2230288

Source and license

Adapted from rs2230288(A;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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.