rs528583612
A SNP in the NGLY1 gene on chromosome 3. Its most notable genotype is A;A: Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
- Gene
- NGLY1
- Location
- Chr 325,720,179 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadHomozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
- A;GBadunaffected carrier of a defective NGLY1 gene allele
- G;GGoodcommon
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other NGLY1 SNPs
- rs201337954A;AHomozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)Very important
- rs587776982-;-Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)Very important
- rs587777265C;CHomozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)Very important
- rs587777266-;-Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)Very important
Notes
From SNPedia
Notes
A;A
Two defective copies of the NGLY1 gene, leading to congenital disorder of deglycosylation (CDDG)
A;G
Unaffected carrier (assuming the other NGLY1 allele is normal) of an allele which is associated with congenital disorder of deglycosylation
Source and license
Adapted from rs528583612 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.