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rs386833426

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833426(A;G)
Make rs386833426(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position177438865
GeneAGA
is asnp
is mentioned by
dbSNPrs386833426
ebirs386833426
HLIrs386833426
Exacrs386833426
Varsomers386833426
Maprs386833426
PheGenIrs386833426
hapmaprs386833426
1000 genomesrs386833426
hgdprs386833426
ensemblrs386833426
gopubmedrs386833426
geneviewrs386833426
scholarrs386833426
googlers386833426
pharmgkbrs386833426
gwascentralrs386833426
openSNPrs386833426
23andMers386833426
23andMe allrs386833426
SNP Nexus

SNPshotrs386833426
SNPdbers386833426
MSV3drs386833426
GWAS Ctlgrs386833426
Max Magnitude0
ClinVar
Risk rs386833426(G;G)
Alt rs386833426(G;G)
Reference rs386833426(A;A)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178360019T>C
CLNSRC ClinVar
CLNACC RCV000049354.1,


[PMID 1756604] Two Japanese cases with aspartylglycosaminuria: clinical and morphological features.


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