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rs121907943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907943(C;T)
Make rs121907943(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80118271
GeneGAA
is asnp
is mentioned by
dbSNPrs121907943
ebirs121907943
HLIrs121907943
Exacrs121907943
Varsomers121907943
Maprs121907943
PheGenIrs121907943
hapmaprs121907943
1000 genomesrs121907943
hgdprs121907943
ensemblrs121907943
gopubmedrs121907943
geneviewrs121907943
scholarrs121907943
googlers121907943
pharmgkbrs121907943
gwascentralrs121907943
openSNPrs121907943
23andMers121907943
23andMe allrs121907943
SNP Nexus

SNPshotrs121907943
SNPdbers121907943
MSV3drs121907943
GWAS Ctlgrs121907943
GMAF0.0004591
Max Magnitude0
OMIM606800
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121907943(T;T)
Alt rs121907943(T;T)
Reference rs121907943(C;C)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78092070C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004249.4,