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rs386833422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833422(-;-)
Make rs386833422(-;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177439634
GeneAGA
is asnp
is mentioned by
dbSNPrs386833422
ebirs386833422
HLIrs386833422
Exacrs386833422
Varsomers386833422
Maprs386833422
PheGenIrs386833422
hapmaprs386833422
1000 genomesrs386833422
hgdprs386833422
ensemblrs386833422
gopubmedrs386833422
geneviewrs386833422
scholarrs386833422
googlers386833422
pharmgkbrs386833422
gwascentralrs386833422
openSNPrs386833422
23andMers386833422
23andMe allrs386833422
SNP Nexus

SNPshotrs386833422
SNPdbers386833422
MSV3drs386833422
GWAS Ctlgrs386833422
Max Magnitude0
ClinVar
Risk rs386833422(;)
Alt rs386833422(;)
Reference rs386833422(T;T)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178360788delA
CLNSRC ClinVar
CLNACC RCV000049350.1,


[PMID 1722323OA-icon.png] Spectrum of mutations in aspartylglucosaminuria.