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rs121907937

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907937(A;A)
Make rs121907937(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80110950
GeneGAA
is asnp
is mentioned by
dbSNPrs121907937
ebirs121907937
HLIrs121907937
Exacrs121907937
Varsomers121907937
Maprs121907937
PheGenIrs121907937
hapmaprs121907937
1000 genomesrs121907937
hgdprs121907937
ensemblrs121907937
gopubmedrs121907937
geneviewrs121907937
scholarrs121907937
googlers121907937
pharmgkbrs121907937
gwascentralrs121907937
openSNPrs121907937
23andMers121907937
23andMe allrs121907937
SNP Nexus

SNPshotrs121907937
SNPdbers121907937
MSV3drs121907937
GWAS Ctlgrs121907937
Max Magnitude0
OMIM606800
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121907937(A;A)
Alt rs121907937(A;A)
Reference rs121907937(G;G)
Significance Pathogenic
Disease Glycogen storage disease type II Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease type II, infantile Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78084749G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004237.3, RCV000169465.1,