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rs1057516928

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516928(G;T)
Make rs1057516928(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80113028
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516928
dbSNP (old)rs1057516928
ClinGenrs1057516928
ebirs1057516928
HLIrs1057516928
Exacrs1057516928
Gnomadrs1057516928
Varsomers1057516928
LitVarrs1057516928
Maprs1057516928
PheGenIrs1057516928
Biobankrs1057516928
1000 genomesrs1057516928
hgdprs1057516928
ensemblrs1057516928
gopubmedrs1057516928
geneviewrs1057516928
scholarrs1057516928
googlers1057516928
pharmgkbrs1057516928
gwascentralrs1057516928
openSNPrs1057516928
23andMers1057516928
23andMe allrs1057516928
SNPshotrs1057516928
SNPdbers1057516928
MSV3drs1057516928
GWAS Ctlgrs1057516928
Max Magnitude0
ClinVar
Risk rs1057516928(T;T)
Alt rs1057516928(T;T)
Reference Rs1057516928(G;G)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78086827G>T
CLNSRC
CLNACC RCV000410649.1,