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rs121907939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(AGA;AGA) 0 common in clinvar
Make rs121907939(-;-)
Make rs121907939(-;AAG)
ReferenceGRCh38 38.1/141
Chromosome17
Position80118713
GeneGAA
is asnp
is mentioned by
dbSNPrs121907939
ebirs121907939
HLIrs121907939
Exacrs121907939
Varsomers121907939
Maprs121907939
PheGenIrs121907939
hapmaprs121907939
1000 genomesrs121907939
hgdprs121907939
ensemblrs121907939
gopubmedrs121907939
geneviewrs121907939
scholarrs121907939
googlers121907939
pharmgkbrs121907939
gwascentralrs121907939
openSNPrs121907939
23andMers121907939
23andMe allrs121907939
SNP Nexus

SNPshotrs121907939
SNPdbers121907939
MSV3drs121907939
GWAS Ctlgrs121907939
Max Magnitude0
OMIM606800
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121907939(;)
Alt rs121907939(;)
Reference rs121907939(AGA;AGA)
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.78092512_78092514delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004243.2,