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rs386833435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833435(-;-)
Make rs386833435(-;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177434400
GeneAGA
is asnp
is mentioned by
dbSNPrs386833435
ebirs386833435
HLIrs386833435
Exacrs386833435
Varsomers386833435
Maprs386833435
PheGenIrs386833435
hapmaprs386833435
1000 genomesrs386833435
hgdprs386833435
ensemblrs386833435
gopubmedrs386833435
geneviewrs386833435
scholarrs386833435
googlers386833435
pharmgkbrs386833435
gwascentralrs386833435
openSNPrs386833435
23andMers386833435
23andMe allrs386833435
SNP Nexus

SNPshotrs386833435
SNPdbers386833435
MSV3drs386833435
GWAS Ctlgrs386833435
Max Magnitude0
ClinVar
Risk rs386833435(;)
Alt rs386833435(;)
Reference rs386833435(T;T)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178355554delA
CLNSRC ClinVar
CLNACC RCV000049363.1,


[PMID 8830180] Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.