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rs386833425

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAC;ACAC) 0 common in clinvar
Make rs386833425(-;-)
Make rs386833425(-;ACAC)
ReferenceGRCh38 38.1/141
Chromosome4
Position177439594
GeneAGA
is asnp
is mentioned by
dbSNPrs386833425
ebirs386833425
HLIrs386833425
Exacrs386833425
Varsomers386833425
Maprs386833425
PheGenIrs386833425
hapmaprs386833425
1000 genomesrs386833425
hgdprs386833425
ensemblrs386833425
gopubmedrs386833425
geneviewrs386833425
scholarrs386833425
googlers386833425
pharmgkbrs386833425
gwascentralrs386833425
openSNPrs386833425
23andMers386833425
23andMe allrs386833425
SNP Nexus

SNPshotrs386833425
SNPdbers386833425
MSV3drs386833425
GWAS Ctlgrs386833425
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs386833425(ACAC;ACAC)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178360748_178360751delGTGT
CLNSRC ClinVar
CLNACC RCV000049353.1,


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