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rs121907942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907942(C;T)
Make rs121907942(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80111023
GeneGAA
is asnp
is mentioned by
dbSNPrs121907942
ebirs121907942
HLIrs121907942
Exacrs121907942
Varsomers121907942
Maprs121907942
PheGenIrs121907942
hapmaprs121907942
1000 genomesrs121907942
hgdprs121907942
ensemblrs121907942
gopubmedrs121907942
geneviewrs121907942
scholarrs121907942
googlers121907942
pharmgkbrs121907942
gwascentralrs121907942
openSNPrs121907942
23andMers121907942
23andMe allrs121907942
SNP Nexus

SNPshotrs121907942
SNPdbers121907942
MSV3drs121907942
GWAS Ctlgrs121907942
Max Magnitude0
OMIM606800
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121907942(T;T)
Alt rs121907942(T;T)
Reference rs121907942(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.78084822C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004247.3,