rs201337954(A;A)

Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)

Magnitude
8.0Very important
Repute
Bad
On SNPedia
rs201337954(A;A)
Gene
NGLY1

Other genotypes of rs201337954

  1. A;TBadunaffected carrier of a defective NGLY1 gene alleleImportant · 3.0
  2. T;TGoodcommonTypical · 0.0

All about rs201337954

Notes

From SNPedia

Two defective copies of the NGLY1 gene, leading to congenital disorder of deglycosylation (CDDG). However, due to orientation issues, this may be spurious and should be confirmed.

Source and license

Adapted from rs201337954(A;A) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.