Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516924(AT;AT)
Make rs1057516924(AT;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80117059
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516924
dbSNP (old)rs1057516924
ClinGenrs1057516924
ebirs1057516924
HLIrs1057516924
Exacrs1057516924
Gnomadrs1057516924
Varsomers1057516924
Maprs1057516924
PheGenIrs1057516924
Biobankrs1057516924
1000 genomesrs1057516924
hgdprs1057516924
ensemblrs1057516924
gopubmedrs1057516924
geneviewrs1057516924
scholarrs1057516924
googlers1057516924
pharmgkbrs1057516924
gwascentralrs1057516924
openSNPrs1057516924
23andMers1057516924
23andMe allrs1057516924
SNPshotrs1057516924
SNPdbers1057516924
MSV3drs1057516924
GWAS Ctlgrs1057516924
Max Magnitude0
ClinVar
Risk rs1057516924(AT;AT)
Alt rs1057516924(AT;AT)
Reference Rs1057516924(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.78090858delGinsAT
CLNSRC
CLNACC RCV000411398.1,