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rs1057516600

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516600(A;G)
Make rs1057516600(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80107816
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516600
dbSNP (old)rs1057516600
ClinGenrs1057516600
ebirs1057516600
HLIrs1057516600
Exacrs1057516600
Gnomadrs1057516600
Varsomers1057516600
Maprs1057516600
PheGenIrs1057516600
Biobankrs1057516600
1000 genomesrs1057516600
hgdprs1057516600
ensemblrs1057516600
gopubmedrs1057516600
geneviewrs1057516600
scholarrs1057516600
googlers1057516600
pharmgkbrs1057516600
gwascentralrs1057516600
openSNPrs1057516600
23andMers1057516600
23andMe allrs1057516600
SNPshotrs1057516600
SNPdbers1057516600
MSV3drs1057516600
GWAS Ctlgrs1057516600
Max Magnitude0
ClinVar
Risk rs1057516600(G;G)
Alt rs1057516600(G;G)
Reference Rs1057516600(A;A)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78081615A>G
CLNSRC
CLNACC RCV000410689.1,