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rs121907940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907940(G;G)
Make rs121907940(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80107837
GeneGAA
is asnp
is mentioned by
dbSNPrs121907940
ebirs121907940
HLIrs121907940
Exacrs121907940
Varsomers121907940
Maprs121907940
PheGenIrs121907940
hapmaprs121907940
1000 genomesrs121907940
hgdprs121907940
ensemblrs121907940
gopubmedrs121907940
geneviewrs121907940
scholarrs121907940
googlers121907940
pharmgkbrs121907940
gwascentralrs121907940
openSNPrs121907940
23andMers121907940
23andMe allrs121907940
SNP Nexus

SNPshotrs121907940
SNPdbers121907940
MSV3drs121907940
GWAS Ctlgrs121907940
Max Magnitude0
OMIM606800
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121907940(C,G;C,G)
Alt rs121907940(C,G;C,G)
Reference rs121907940(T;T)
Significance Pathogenic
Disease Glycogen storage disease Glycogen storage disease type II
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II Glycogen storage disease type II, infantile
Reversed 0
HGVS NC_000017.10:g.78081636T>C; NC_000017.10:g.78081636T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000156941.1, RCV000004240.2,