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rs1055945806

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80104552
GeneGAA
is asnp
is mentioned by
dbSNPrs1055945806
dbSNP (old)rs1055945806
ClinGenrs1055945806
ebirs1055945806
HLIrs1055945806
Exacrs1055945806
Gnomadrs1055945806
Varsomers1055945806
Maprs1055945806
PheGenIrs1055945806
Biobankrs1055945806
1000 genomesrs1055945806
hgdprs1055945806
ensemblrs1055945806
gopubmedrs1055945806
geneviewrs1055945806
scholarrs1055945806
googlers1055945806
pharmgkbrs1055945806
gwascentralrs1055945806
openSNPrs1055945806
23andMers1055945806
23andMe allrs1055945806
SNPshotrs1055945806
SNPdbers1055945806
MSV3drs1055945806
GWAS Ctlgrs1055945806
Max Magnitude0
ClinVar
Risk rs1055945806(A;A)
Alt rs1055945806(A;A)
Reference Rs1055945806(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78078351C>A
CLNSRC
CLNACC RCV000412452.1,