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rs386833420

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs386833420(-;-)
Make rs386833420(-;AG)
ReferenceGRCh38 38.1/141
Chromosome4
Position177440353
GeneAGA
is asnp
is mentioned by
dbSNPrs386833420
ebirs386833420
HLIrs386833420
Exacrs386833420
Varsomers386833420
Maprs386833420
PheGenIrs386833420
hapmaprs386833420
1000 genomesrs386833420
hgdprs386833420
ensemblrs386833420
gopubmedrs386833420
geneviewrs386833420
scholarrs386833420
googlers386833420
pharmgkbrs386833420
gwascentralrs386833420
openSNPrs386833420
23andMers386833420
23andMe allrs386833420
SNP Nexus

SNPshotrs386833420
SNPdbers386833420
MSV3drs386833420
GWAS Ctlgrs386833420
Max Magnitude0
ClinVar
Risk rs386833420(;)
Alt rs386833420(;)
Reference rs386833420(AG;AG)
Significance Other
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178361507_178361508delCT
CLNSRC ClinVar
CLNACC RCV000049348.3,


[PMID 7627186] Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.