rs587776982

Orientation

plus

Stabilized

minus

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
(C;C)	0	common in clinvar
(CA;CA)	0	common in clinvar
(G;G)	0	common

Reference

GRCh38 38.1/142

Chromosome

3

Position

25719534

Gene

NGLY1

is a	snp
is	mentioned by
dbSNP	rs587776982
dbSNP (classic)	rs587776982
ClinGen	rs587776982
ebi	rs587776982
HLI	rs587776982
Exac	rs587776982
Gnomad	rs587776982
Varsome	rs587776982
LitVar	rs587776982
Map	rs587776982
PheGenI	rs587776982
Biobank	rs587776982
1000 genomes	rs587776982
hgdp	rs587776982
ensembl	rs587776982
geneview	rs587776982
scholar	rs587776982
google	rs587776982
pharmgkb	rs587776982
gwascentral	rs587776982
openSNP	rs587776982
23andMe	rs587776982
SNPshot	rs587776982
SNPdbe	rs587776982
MSV3d	rs587776982
GWAS Ctlg	rs587776982

Max Magnitude

8

ClinVar
Risk	Rs587776982(G;G) Rs587776982(-;-)
Alt	Rs587776982(G;G) Rs587776982(-;-)
Reference	Rs587776982(C;C)
Significance	Pathogenic
Disease	Congenital disorder of deglycosylation not provided
Variation	info
Gene	NGLY1
CLNDBN	Congenital disorder of deglycosylation not provided
Reversed	1
HGVS	NC_000003.11:g.25761025delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043662.5, RCV000255027.1,