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rs121964909

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964909(C;C)
Make rs121964909(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177440340
GeneAGA
is asnp
is mentioned by
dbSNPrs121964909
ebirs121964909
HLIrs121964909
Exacrs121964909
Varsomers121964909
Maprs121964909
PheGenIrs121964909
hapmaprs121964909
1000 genomesrs121964909
hgdprs121964909
ensemblrs121964909
gopubmedrs121964909
geneviewrs121964909
scholarrs121964909
googlers121964909
pharmgkbrs121964909
gwascentralrs121964909
openSNPrs121964909
23andMers121964909
23andMe allrs121964909
SNP Nexus

SNPshotrs121964909
SNPdbers121964909
MSV3drs121964909
GWAS Ctlgrs121964909
Max Magnitude0
OMIM613228
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121964909(C;C)
Alt rs121964909(C;C)
Reference rs121964909(T;T)
Significance Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178361494A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000253.4,