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rs386833434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833434(C;T)
Make rs386833434(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177434418
GeneAGA
is asnp
is mentioned by
dbSNPrs386833434
ebirs386833434
HLIrs386833434
Exacrs386833434
Varsomers386833434
Maprs386833434
PheGenIrs386833434
hapmaprs386833434
1000 genomesrs386833434
hgdprs386833434
ensemblrs386833434
gopubmedrs386833434
geneviewrs386833434
scholarrs386833434
googlers386833434
pharmgkbrs386833434
gwascentralrs386833434
openSNPrs386833434
23andMers386833434
23andMe allrs386833434
SNP Nexus

SNPshotrs386833434
SNPdbers386833434
MSV3drs386833434
GWAS Ctlgrs386833434
Max Magnitude0
ClinVar
Risk rs386833434(T;T)
Alt rs386833434(T;T)
Reference rs386833434(C;C)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178355572G>A
CLNSRC ClinVar
CLNACC RCV000049362.1,


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