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rs1057516649

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516649(-;-)
Make rs1057516649(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80117020
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516649
dbSNP (old)rs1057516649
ClinGenrs1057516649
ebirs1057516649
HLIrs1057516649
Exacrs1057516649
Gnomadrs1057516649
Varsomers1057516649
Maprs1057516649
PheGenIrs1057516649
Biobankrs1057516649
1000 genomesrs1057516649
hgdprs1057516649
ensemblrs1057516649
gopubmedrs1057516649
geneviewrs1057516649
scholarrs1057516649
googlers1057516649
pharmgkbrs1057516649
gwascentralrs1057516649
openSNPrs1057516649
23andMers1057516649
23andMe allrs1057516649
SNPshotrs1057516649
SNPdbers1057516649
MSV3drs1057516649
GWAS Ctlgrs1057516649
Max Magnitude0
ClinVar
Risk rs1057516649(-;-)
Alt rs1057516649(-;-)
Reference Rs1057516649(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.78090819delG
CLNSRC
CLNACC RCV000409225.1,