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rs587777266

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
(-;TTC) 3 unaffected carrier of a defective NGLY1 gene allele
(TTC;TTC) 0 common
ReferenceGRCh38 38.1/142
Chromosome3
Position25733925
GeneNGLY1
is asnp
is mentioned by
dbSNPrs587777266
ebirs587777266
HLIrs587777266
Exacrs587777266
Varsomers587777266
Maprs587777266
PheGenIrs587777266
hapmaprs587777266
1000 genomesrs587777266
hgdprs587777266
ensemblrs587777266
gopubmedrs587777266
geneviewrs587777266
scholarrs587777266
googlers587777266
pharmgkbrs587777266
gwascentralrs587777266
openSNPrs587777266
23andMers587777266
23andMe allrs587777266
SNP Nexus

SNPshotrs587777266
SNPdbers587777266
MSV3drs587777266
GWAS Ctlgrs587777266
Max Magnitude8
ClinVar
Risk rs587777266(;)
Alt rs587777266(;)
Reference rs587777266(TTC;TTC)
Significance Pathogenic
Disease Congenital disorder of deglycosylation
Variation info
Gene NGLY1
CLNDBN Congenital disorder of deglycosylation
Reversed 0
HGVS NC_000003.11:g.25775416_25775418delTTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000114363.4,