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rs1057517381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517381(-;-)
Make rs1057517381(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80104979
GeneGAA
is asnp
is mentioned by
dbSNPrs1057517381
dbSNP (classic)rs1057517381
ClinGenrs1057517381
ebirs1057517381
HLIrs1057517381
Exacrs1057517381
Gnomadrs1057517381
Varsomers1057517381
LitVarrs1057517381
Maprs1057517381
PheGenIrs1057517381
Biobankrs1057517381
1000 genomesrs1057517381
hgdprs1057517381
ensemblrs1057517381
geneviewrs1057517381
scholarrs1057517381
googlers1057517381
pharmgkbrs1057517381
gwascentralrs1057517381
openSNPrs1057517381
23andMers1057517381
23andMe allrs1057517381
SNPshotrs1057517381
SNPdbers1057517381
MSV3drs1057517381
GWAS Ctlgrs1057517381
Max Magnitude0
ClinVar
Risk rs1057517381(-;-)
Alt rs1057517381(-;-)
Reference Rs1057517381(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78078778delC
CLNSRC
CLNACC RCV000411224.1,