rs147324677(C;G)

Carrier for a Tay-Sachs mutation

Magnitude
3.0Important
Repute
Bad
On SNPedia
rs147324677(C;G)
Gene
HEXA

Other genotypes of rs147324677

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. G;GMost notableBadTay-Sachs disease (predicted)Very important · 8.8

All about rs147324677

Notes

From SNPedia

Unaffected in absence of a second HEXA gene mutation; see discussion at Tay-Sachs disease

Source and license

Adapted from rs147324677(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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.