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rs121907941

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs121907941(GT;GT)
Make rs121907941(GT;TC)
ReferenceGRCh38 38.1/141
Chromosome17
Position80110974
GeneGAA
is asnp
is mentioned by
dbSNPrs121907941
ebirs121907941
HLIrs121907941
Exacrs121907941
Varsomers121907941
Maprs121907941
PheGenIrs121907941
hapmaprs121907941
1000 genomesrs121907941
hgdprs121907941
ensemblrs121907941
gopubmedrs121907941
geneviewrs121907941
scholarrs121907941
googlers121907941
pharmgkbrs121907941
gwascentralrs121907941
openSNPrs121907941
23andMers121907941
23andMe allrs121907941
SNP Nexus

SNPshotrs121907941
SNPdbers121907941
MSV3drs121907941
GWAS Ctlgrs121907941
Max Magnitude0
OMIM606800
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121907941(GT;GT)
Alt rs121907941(GT;GT)
Reference rs121907941(TC;TC)
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.78084773_78084774delTCinsGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004241.3,