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rs121964904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964904(C;C)
Make rs121964904(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position177438764
GeneAGA
is asnp
is mentioned by
dbSNPrs121964904
ebirs121964904
HLIrs121964904
Exacrs121964904
Varsomers121964904
Maprs121964904
PheGenIrs121964904
hapmaprs121964904
1000 genomesrs121964904
hgdprs121964904
ensemblrs121964904
gopubmedrs121964904
geneviewrs121964904
scholarrs121964904
googlers121964904
pharmgkbrs121964904
gwascentralrs121964904
openSNPrs121964904
23andMers121964904
23andMe allrs121964904
SNP Nexus

SNPshotrs121964904
SNPdbers121964904
MSV3drs121964904
GWAS Ctlgrs121964904
GMAF0.0009183
Max Magnitude0
OMIM613228
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964904(C;C)
Alt rs121964904(C;C)
Reference rs121964904(G;G)
Significance Pathogenic
Disease Aspartylglucosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglucosaminuria, finnish type
Reversed 1
HGVS NC_000004.11:g.178359918C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000243.3,