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rs121964908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964908(C;T)
Make rs121964908(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177439668
GeneAGA
is asnp
is mentioned by
dbSNPrs121964908
ebirs121964908
HLIrs121964908
Exacrs121964908
Varsomers121964908
Maprs121964908
PheGenIrs121964908
hapmaprs121964908
1000 genomesrs121964908
hgdprs121964908
ensemblrs121964908
gopubmedrs121964908
geneviewrs121964908
scholarrs121964908
googlers121964908
pharmgkbrs121964908
gwascentralrs121964908
openSNPrs121964908
23andMers121964908
23andMe allrs121964908
SNP Nexus

SNPshotrs121964908
SNPdbers121964908
MSV3drs121964908
GWAS Ctlgrs121964908
Max Magnitude0
OMIM613228
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964908(T;T)
Alt rs121964908(T;T)
Reference rs121964908(C;C)
Significance Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178360822G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000247.5,