i4000440(A;G)

Likely to lead to a false positive blood test for Tay-Sachs Disease

Magnitude
2.0Worth knowing
Repute
Bad
On SNPedia
i4000440(A;G)
Gene
HEXA

Other genotypes of i4000440

  1. A;AMost notableBadlikely to lead to a false positive blood test for Tay Sachs diseaseWorth knowing · 2.0
  2. G;GGoodnormalTypical · 0.0

All about i4000440

Notes

From SNPedia

This SNP is associated with a change in the protein encoded by the HEXA gene, which leads to a false positive blood test for Tay-Sachs Disease. In other words, the blood test from an individual with this genotype will indicate the person is a carrier for Tay Sachs disease, even though this SNP is not actually one that leads to the disease. Note however that the person may still carry (on their other chromosome 15) a "true" Tay Sachs causing allele.

Source and license

Adapted from i4000440(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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.