rs528583612

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/142

Chromosome

3

Position

25720179

Gene

NGLY1

is a	snp
is	mentioned by
dbSNP	rs528583612
dbSNP (classic)	rs528583612
ClinGen	rs528583612
ebi	rs528583612
HLI	rs528583612
Exac	rs528583612
Gnomad	rs528583612
Varsome	rs528583612
LitVar	rs528583612
Map	rs528583612
PheGenI	rs528583612
Biobank	rs528583612
1000 genomes	rs528583612
hgdp	rs528583612
ensembl	rs528583612
geneview	rs528583612
scholar	rs528583612
google	rs528583612
pharmgkb	rs528583612
gwascentral	rs528583612
openSNP	rs528583612
23andMe	rs528583612
SNPshot	rs528583612
SNPdbe	rs528583612
MSV3d	rs528583612
GWAS Ctlg	rs528583612

Max Magnitude

8

ClinVar
Risk	Rs528583612(A;A)
Alt	Rs528583612(A;A)
Reference	Rs528583612(G;G)
Significance	Pathogenic
Disease	Congenital disorder of deglycosylation
Variation	info
Gene	NGLY1
CLNDBN	Congenital disorder of deglycosylation
Reversed	0
HGVS	NC_000003.11:g.25761670G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000114364.4,