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rs1057516426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516426(C;T)
Make rs1057516426(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80112033
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516426
dbSNP (classic)rs1057516426
ClinGenrs1057516426
ebirs1057516426
HLIrs1057516426
Exacrs1057516426
Gnomadrs1057516426
Varsomers1057516426
LitVarrs1057516426
Maprs1057516426
PheGenIrs1057516426
Biobankrs1057516426
1000 genomesrs1057516426
hgdprs1057516426
ensemblrs1057516426
geneviewrs1057516426
scholarrs1057516426
googlers1057516426
pharmgkbrs1057516426
gwascentralrs1057516426
openSNPrs1057516426
23andMers1057516426
23andMe allrs1057516426
SNPshotrs1057516426
SNPdbers1057516426
MSV3drs1057516426
GWAS Ctlgrs1057516426
Max Magnitude0
ClinVar
Risk rs1057516426(T;T)
Alt rs1057516426(T;T)
Reference Rs1057516426(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.78085832C>T
CLNSRC
CLNACC RCV000411330.1,