rs1064651(G;G)

Possibly Gaucher's disease, but more likely a mis-oriented interpretation

Magnitude
8.0Very important
Repute
Bad
On SNPedia
rs1064651(C;C)Minus strand
Gene
GBA

Other genotypes of rs1064651

  1. C;GBadCarrier of a Gaucher disease mutationImportant · 3.0
  2. C;CGoodcommon/normalTypical · 0.0

All about rs1064651

Notes

From SNPedia

This genotype technically represents carrying two copies of the D409H mutation in the GBA gene, and thus most likely a form of Gaucher's disease. However, errors in interpretation for C/G transversion mutatations occur far more frequently than Gaucher's disease does, so this is likely to actually be an error. Interpretation can be problematic due to orientation issues involving ambiguous flips

Source and license

Adapted from rs1064651(C;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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.