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rs1057516251

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516251(C;T)
Make rs1057516251(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80104755
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516251
dbSNP (old)rs1057516251
ClinGenrs1057516251
ebirs1057516251
HLIrs1057516251
Exacrs1057516251
Gnomadrs1057516251
Varsomers1057516251
Maprs1057516251
PheGenIrs1057516251
Biobankrs1057516251
1000 genomesrs1057516251
hgdprs1057516251
ensemblrs1057516251
gopubmedrs1057516251
geneviewrs1057516251
scholarrs1057516251
googlers1057516251
pharmgkbrs1057516251
gwascentralrs1057516251
openSNPrs1057516251
23andMers1057516251
23andMe allrs1057516251
SNPshotrs1057516251
SNPdbers1057516251
MSV3drs1057516251
GWAS Ctlgrs1057516251
Max Magnitude0
ClinVar
Risk rs1057516251(T;T)
Alt rs1057516251(T;T)
Reference Rs1057516251(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.78078554C>T
CLNSRC
CLNACC RCV000412122.1,