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rs121907945

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907945(A;A)
Make rs121907945(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80107818
GeneGAA
is asnp
is mentioned by
dbSNPrs121907945
ebirs121907945
HLIrs121907945
Exacrs121907945
Varsomers121907945
Maprs121907945
PheGenIrs121907945
hapmaprs121907945
1000 genomesrs121907945
hgdprs121907945
ensemblrs121907945
gopubmedrs121907945
geneviewrs121907945
scholarrs121907945
googlers121907945
pharmgkbrs121907945
gwascentralrs121907945
openSNPrs121907945
23andMers121907945
23andMe allrs121907945
SNP Nexus

SNPshotrs121907945
SNPdbers121907945
MSV3drs121907945
GWAS Ctlgrs121907945
Max Magnitude0
OMIM606800
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121907945(A;A)
Alt rs121907945(A;A)
Reference rs121907945(G;G)
Significance Pathogenic
Disease Glycogen storage disease II
Variation info
Gene GAA
CLNDBN Glycogen storage disease II, adult form
Reversed 0
HGVS NC_000017.10:g.78081617G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004251.2,