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rs121964906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964906(C;C)
Make rs121964906(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177433238
GeneAGA
is asnp
is mentioned by
dbSNPrs121964906
ebirs121964906
HLIrs121964906
Exacrs121964906
Varsomers121964906
Maprs121964906
PheGenIrs121964906
hapmaprs121964906
1000 genomesrs121964906
hgdprs121964906
ensemblrs121964906
gopubmedrs121964906
geneviewrs121964906
scholarrs121964906
googlers121964906
pharmgkbrs121964906
gwascentralrs121964906
openSNPrs121964906
23andMers121964906
23andMe allrs121964906
SNP Nexus

SNPshotrs121964906
SNPdbers121964906
MSV3drs121964906
GWAS Ctlgrs121964906
Max Magnitude0
OMIM613228
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121964906(C;C)
Alt rs121964906(C;C)
Reference rs121964906(T;T)
Significance Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178354392A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000245.5,