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rs386833432

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833432(C;C)
Make rs386833432(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position177434434
GeneAGA
is asnp
is mentioned by
dbSNPrs386833432
ebirs386833432
HLIrs386833432
Exacrs386833432
Varsomers386833432
Maprs386833432
PheGenIrs386833432
hapmaprs386833432
1000 genomesrs386833432
hgdprs386833432
ensemblrs386833432
gopubmedrs386833432
geneviewrs386833432
scholarrs386833432
googlers386833432
pharmgkbrs386833432
gwascentralrs386833432
openSNPrs386833432
23andMers386833432
23andMe allrs386833432
SNP Nexus

SNPshotrs386833432
SNPdbers386833432
MSV3drs386833432
GWAS Ctlgrs386833432
Max Magnitude0
ClinVar
Risk rs386833432(C;C)
Alt rs386833432(C;C)
Reference rs386833432(G;G)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178355588C>G
CLNSRC ClinVar
CLNACC RCV000049360.1,


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