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rs121907944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907944(C;T)
Make rs121907944(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80107574
GeneGAA
is asnp
is mentioned by
dbSNPrs121907944
ebirs121907944
HLIrs121907944
Exacrs121907944
Varsomers121907944
Maprs121907944
PheGenIrs121907944
hapmaprs121907944
1000 genomesrs121907944
hgdprs121907944
ensemblrs121907944
gopubmedrs121907944
geneviewrs121907944
scholarrs121907944
googlers121907944
pharmgkbrs121907944
gwascentralrs121907944
openSNPrs121907944
23andMers121907944
23andMe allrs121907944
SNP Nexus

SNPshotrs121907944
SNPdbers121907944
MSV3drs121907944
GWAS Ctlgrs121907944
Max Magnitude0
OMIM606800
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121907944(T;T)
Alt rs121907944(T;T)
Reference rs121907944(C;C)
Significance Pathogenic
Disease Glycogen storage disease II
Variation info
Gene GAA
CLNDBN Glycogen storage disease II, adult form
Reversed 0
HGVS NC_000017.10:g.78081373C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004250.3,