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rs528583612

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/142
Chromosome3
Position25720179
GeneNGLY1
is asnp
is mentioned by
dbSNPrs528583612
ebirs528583612
HLIrs528583612
Exacrs528583612
Varsomers528583612
Maprs528583612
PheGenIrs528583612
hapmaprs528583612
1000 genomesrs528583612
hgdprs528583612
ensemblrs528583612
gopubmedrs528583612
geneviewrs528583612
scholarrs528583612
googlers528583612
pharmgkbrs528583612
gwascentralrs528583612
openSNPrs528583612
23andMers528583612
23andMe allrs528583612
SNP Nexus

SNPshotrs528583612
SNPdbers528583612
MSV3drs528583612
GWAS Ctlgrs528583612
Max Magnitude8
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,