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rs121907936

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907936(C;C)
Make rs121907936(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80107894
GeneGAA
is asnp
is mentioned by
dbSNPrs121907936
ebirs121907936
HLIrs121907936
Exacrs121907936
Varsomers121907936
Maprs121907936
PheGenIrs121907936
hapmaprs121907936
1000 genomesrs121907936
hgdprs121907936
ensemblrs121907936
gopubmedrs121907936
geneviewrs121907936
scholarrs121907936
googlers121907936
pharmgkbrs121907936
gwascentralrs121907936
openSNPrs121907936
23andMers121907936
23andMe allrs121907936
SNP Nexus

SNPshotrs121907936
SNPdbers121907936
MSV3drs121907936
GWAS Ctlgrs121907936
Max Magnitude0
OMIM606800
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121907936(C;C)
Alt rs121907936(C;C)
Reference rs121907936(T;T)
Significance Pathogenic
Disease Glycogen storage disease type II
Variation info
Gene GAA
CLNDBN Glycogen storage disease type II, infantile
Reversed 0
HGVS NC_000017.10:g.78081693T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004236.3,