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rs587777265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common
(-;C) 3 unaffected carrier of a defective NGLY1 gene allele
(C;C) 8 Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
ReferenceGRCh38 38.1/142
Chromosome3
Position25732374
GeneNGLY1
is asnp
is mentioned by
dbSNPrs587777265
ebirs587777265
HLIrs587777265
Exacrs587777265
Varsomers587777265
Maprs587777265
PheGenIrs587777265
hapmaprs587777265
1000 genomesrs587777265
hgdprs587777265
ensemblrs587777265
gopubmedrs587777265
geneviewrs587777265
scholarrs587777265
googlers587777265
pharmgkbrs587777265
gwascentralrs587777265
openSNPrs587777265
23andMers587777265
23andMe allrs587777265
SNP Nexus

SNPshotrs587777265
SNPdbers587777265
MSV3drs587777265
GWAS Ctlgrs587777265
Max Magnitude8
ClinVar
Risk rs587777265(C;C)
Alt rs587777265(C;C)
Reference rs587777265(;)
Significance Pathogenic
Disease Congenital disorder of deglycosylation
Variation info
Gene NGLY1
CLNDBN Congenital disorder of deglycosylation
Reversed 0
HGVS NC_000003.11:g.25773865dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000114362.4,