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rs386833437

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833437(G;T)
Make rs386833437(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177433213
GeneAGA
is asnp
is mentioned by
dbSNPrs386833437
ebirs386833437
HLIrs386833437
Exacrs386833437
Varsomers386833437
Maprs386833437
PheGenIrs386833437
hapmaprs386833437
1000 genomesrs386833437
hgdprs386833437
ensemblrs386833437
gopubmedrs386833437
geneviewrs386833437
scholarrs386833437
googlers386833437
pharmgkbrs386833437
gwascentralrs386833437
openSNPrs386833437
23andMers386833437
23andMe allrs386833437
SNP Nexus

SNPshotrs386833437
SNPdbers386833437
MSV3drs386833437
GWAS Ctlgrs386833437
Max Magnitude0
ClinVar
Risk rs386833437(T;T)
Alt rs386833437(T;T)
Reference rs386833437(G;G)
Significance Other
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178354367C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000251.6,


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