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rs121907938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907938(C;T)
Make rs121907938(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80113350
GeneGAA
is asnp
is mentioned by
dbSNPrs121907938
ebirs121907938
HLIrs121907938
Exacrs121907938
Varsomers121907938
Maprs121907938
PheGenIrs121907938
hapmaprs121907938
1000 genomesrs121907938
hgdprs121907938
ensemblrs121907938
gopubmedrs121907938
geneviewrs121907938
scholarrs121907938
googlers121907938
pharmgkbrs121907938
gwascentralrs121907938
openSNPrs121907938
23andMers121907938
23andMe allrs121907938
SNP Nexus

SNPshotrs121907938
SNPdbers121907938
MSV3drs121907938
GWAS Ctlgrs121907938
Merged fromRs28939100
Max Magnitude0
OMIM606800
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121907938(T;T)
Alt rs121907938(T;T)
Reference rs121907938(C;C)
Significance Pathogenic
Disease Glycogen storage disease II Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease II, adult form Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78087149C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004239.2, RCV000169045.1,