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rs386833428

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833428(C;C)
Make rs386833428(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177438813
GeneAGA
is asnp
is mentioned by
dbSNPrs386833428
ebirs386833428
HLIrs386833428
Exacrs386833428
Varsomers386833428
Maprs386833428
PheGenIrs386833428
hapmaprs386833428
1000 genomesrs386833428
hgdprs386833428
ensemblrs386833428
gopubmedrs386833428
geneviewrs386833428
scholarrs386833428
googlers386833428
pharmgkbrs386833428
gwascentralrs386833428
openSNPrs386833428
23andMers386833428
23andMe allrs386833428
SNP Nexus

SNPshotrs386833428
SNPdbers386833428
MSV3drs386833428
GWAS Ctlgrs386833428
Max Magnitude0
ClinVar
Risk rs386833428(C;C)
Alt rs386833428(C;C)
Reference rs386833428(T;T)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178359967A>G
CLNSRC ClinVar
CLNACC RCV000049356.1,


[PMID 23271757] Aspartylglucosaminuria: unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.