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rs1126690

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1126690(A;A)
Make rs1126690(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80117606
GeneGAA
is asnp
is mentioned by
dbSNPrs1126690
dbSNP (old)rs1126690
ClinGenrs1126690
ebirs1126690
HLIrs1126690
Exacrs1126690
Gnomadrs1126690
Varsomers1126690
Maprs1126690
PheGenIrs1126690
Biobankrs1126690
1000 genomesrs1126690
hgdprs1126690
ensemblrs1126690
gopubmedrs1126690
geneviewrs1126690
scholarrs1126690
googlers1126690
pharmgkbrs1126690
gwascentralrs1126690
openSNPrs1126690
23andMers1126690
23andMe allrs1126690
SNPshotrs1126690
SNPdbers1126690
MSV3drs1126690
GWAS Ctlgrs1126690
GMAF0.3049
Max Magnitude0
? (A;A) (A;G) (G;G) 28



ClinVar
Risk rs1126690(A;A) rs1126690(T;T)
Alt rs1126690(A;A) rs1126690(T;T)
Reference Rs1126690(G;G)
Significance Non-pathogenic
Disease not specified Glycogen storage disease
Variation info
Gene GAA
CLNDBN not specified Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78091405G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000078171.6, RCV000336875.1,