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rs121964905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964905(A;A)
Make rs121964905(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position177433250
GeneAGA
is asnp
is mentioned by
dbSNPrs121964905
ebirs121964905
HLIrs121964905
Exacrs121964905
Varsomers121964905
Maprs121964905
PheGenIrs121964905
hapmaprs121964905
1000 genomesrs121964905
hgdprs121964905
ensemblrs121964905
gopubmedrs121964905
geneviewrs121964905
scholarrs121964905
googlers121964905
pharmgkbrs121964905
gwascentralrs121964905
openSNPrs121964905
23andMers121964905
23andMe allrs121964905
SNP Nexus

SNPshotrs121964905
SNPdbers121964905
MSV3drs121964905
GWAS Ctlgrs121964905
Max Magnitude0
OMIM613228
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964905(A;A)
Alt rs121964905(A;A)
Reference rs121964905(G;G)
Significance Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178354404C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000244.5,