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rs386833421

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833421(A;A)
Make rs386833421(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position177439671
GeneAGA
is asnp
is mentioned by
dbSNPrs386833421
ebirs386833421
HLIrs386833421
Exacrs386833421
Varsomers386833421
Maprs386833421
PheGenIrs386833421
hapmaprs386833421
1000 genomesrs386833421
hgdprs386833421
ensemblrs386833421
gopubmedrs386833421
geneviewrs386833421
scholarrs386833421
googlers386833421
pharmgkbrs386833421
gwascentralrs386833421
openSNPrs386833421
23andMers386833421
23andMe allrs386833421
SNP Nexus

SNPshotrs386833421
SNPdbers386833421
MSV3drs386833421
GWAS Ctlgrs386833421
Max Magnitude0
ClinVar
Risk rs386833421(A;A)
Alt rs386833421(A;A)
Reference rs386833421(G;G)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178360825C>T
CLNSRC ClinVar
CLNACC RCV000049349.2,


[PMID 9137882] Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.