Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776982(-;-)

From SNPedia

Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
Is agenotype
ofrs587776982
GeneNGLY1
Chromosome3
Position25,719,534
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(-;-) 8 Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
(-;G) 3 unaffected carrier of a defective NGLY1 gene allele
(CA;CA) 0 common in clinvar
(G;G) 0 common

Two defective copies of the NGLY1 gene, leading to congenital disorder of deglycosylation (CDDG)