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rs1057516277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516277(C;T)
Make rs1057516277(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80117005
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516277
dbSNP (old)rs1057516277
ClinGenrs1057516277
ebirs1057516277
HLIrs1057516277
Exacrs1057516277
Gnomadrs1057516277
Varsomers1057516277
Maprs1057516277
PheGenIrs1057516277
Biobankrs1057516277
1000 genomesrs1057516277
hgdprs1057516277
ensemblrs1057516277
gopubmedrs1057516277
geneviewrs1057516277
scholarrs1057516277
googlers1057516277
pharmgkbrs1057516277
gwascentralrs1057516277
openSNPrs1057516277
23andMers1057516277
23andMe allrs1057516277
SNPshotrs1057516277
SNPdbers1057516277
MSV3drs1057516277
GWAS Ctlgrs1057516277
Max Magnitude0
ClinVar
Risk rs1057516277(T;T)
Alt rs1057516277(T;T)
Reference Rs1057516277(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.78090804C>T
CLNSRC
CLNACC RCV000410278.1,