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rs386833430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833430(A;A)
Make rs386833430(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position177438749
GeneAGA
is asnp
is mentioned by
dbSNPrs386833430
ebirs386833430
HLIrs386833430
Exacrs386833430
Varsomers386833430
Maprs386833430
PheGenIrs386833430
hapmaprs386833430
1000 genomesrs386833430
hgdprs386833430
ensemblrs386833430
gopubmedrs386833430
geneviewrs386833430
scholarrs386833430
googlers386833430
pharmgkbrs386833430
gwascentralrs386833430
openSNPrs386833430
23andMers386833430
23andMe allrs386833430
SNP Nexus

SNPshotrs386833430
SNPdbers386833430
MSV3drs386833430
GWAS Ctlgrs386833430
Max Magnitude0
ClinVar
Risk rs386833430(A;A)
Alt rs386833430(A;A)
Reference rs386833430(G;G)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178359903C>T
CLNSRC ClinVar
CLNACC RCV000049358.2,


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