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rs386833429

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833429(G;G)
Make rs386833429(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177442332
GeneAGA
is asnp
is mentioned by
dbSNPrs386833429
ebirs386833429
HLIrs386833429
Exacrs386833429
Varsomers386833429
Maprs386833429
PheGenIrs386833429
hapmaprs386833429
1000 genomesrs386833429
hgdprs386833429
ensemblrs386833429
gopubmedrs386833429
geneviewrs386833429
scholarrs386833429
googlers386833429
pharmgkbrs386833429
gwascentralrs386833429
openSNPrs386833429
23andMers386833429
23andMe allrs386833429
SNP Nexus

SNPshotrs386833429
SNPdbers386833429
MSV3drs386833429
GWAS Ctlgrs386833429
Max Magnitude0
ClinVar
Risk rs386833429(G;G)
Alt rs386833429(G;G)
Reference rs386833429(T;T)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA LOC285500
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178363486A>C
CLNSRC ClinVar
CLNACC RCV000049357.1,


[PMID 15365992] A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.