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rs386833433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833433(A;A)
Make rs386833433(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position177434433
GeneAGA
is asnp
is mentioned by
dbSNPrs386833433
ebirs386833433
HLIrs386833433
Exacrs386833433
Varsomers386833433
Maprs386833433
PheGenIrs386833433
hapmaprs386833433
1000 genomesrs386833433
hgdprs386833433
ensemblrs386833433
gopubmedrs386833433
geneviewrs386833433
scholarrs386833433
googlers386833433
pharmgkbrs386833433
gwascentralrs386833433
openSNPrs386833433
23andMers386833433
23andMe allrs386833433
SNP Nexus

SNPshotrs386833433
SNPdbers386833433
MSV3drs386833433
GWAS Ctlgrs386833433
Max Magnitude0
ClinVar
Risk rs386833433(A;A)
Alt rs386833433(A;A)
Reference rs386833433(G;G)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178355587C>T
CLNSRC ClinVar
CLNACC RCV000049361.1,


[PMID 11309371] Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.