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rs528583612(A;G)

From SNPedia

unaffected carrier of a defective NGLY1 gene allele
Is agenotype
ofrs528583612
GeneNGLY1
Chromosome3
Position25,720,179
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8 Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
(A;G) 3 unaffected carrier of a defective NGLY1 gene allele
(G;G) 0 common

Unaffected carrier (assuming the other NGLY1 allele is normal) of an allele which is associated with congenital disorder of deglycosylation