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rs1042393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1042393(A;G)
Make rs1042393(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80105798
GeneGAA
is asnp
is mentioned by
dbSNPrs1042393
dbSNP (old)rs1042393
ClinGenrs1042393
ebirs1042393
HLIrs1042393
Exacrs1042393
Gnomadrs1042393
Varsomers1042393
Maprs1042393
PheGenIrs1042393
Biobankrs1042393
1000 genomesrs1042393
hgdprs1042393
ensemblrs1042393
gopubmedrs1042393
geneviewrs1042393
scholarrs1042393
googlers1042393
pharmgkbrs1042393
gwascentralrs1042393
openSNPrs1042393
23andMers1042393
23andMe allrs1042393
SNPshotrs1042393
SNPdbers1042393
MSV3drs1042393
GWAS Ctlgrs1042393
GMAF0.382
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs1042393(G;G)
Alt rs1042393(G;G)
Reference Rs1042393(A;A)
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.78079597A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000078183.6, RCV000275148.1,