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rs587776982

From SNPedia

Orientationplus
Stabilizedplus
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
(CA;CA) 0 common in clinvar
(G;G) 0 common
ReferenceGRCh38 38.1/142
Chromosome3
Position25719534
GeneNGLY1
is asnp
is mentioned by
dbSNPrs587776982
ebirs587776982
HLIrs587776982
Exacrs587776982
Varsomers587776982
Maprs587776982
PheGenIrs587776982
hapmaprs587776982
1000 genomesrs587776982
hgdprs587776982
ensemblrs587776982
gopubmedrs587776982
geneviewrs587776982
scholarrs587776982
googlers587776982
pharmgkbrs587776982
gwascentralrs587776982
openSNPrs587776982
23andMers587776982
23andMe allrs587776982
SNP Nexus

SNPshotrs587776982
SNPdbers587776982
MSV3drs587776982
GWAS Ctlgrs587776982
Max Magnitude8
ClinVar
Risk rs587776982(GA,A;GA,A)
Alt rs587776982(GA,A;GA,A)
Reference rs587776982(CA;CA)
Significance Pathogenic
Disease Congenital disorder of deglycosylation
Variation info
Gene NGLY1
CLNDBN Congenital disorder of deglycosylation
Reversed 1
HGVS NC_000003.11:g.25761025delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000043662.4,