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rs786204727

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs786204727(-;A)
Make rs786204727(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80112649
GeneGAA
is asnp
is mentioned by
dbSNPrs786204727
dbSNP (classic)rs786204727
ClinGenrs786204727
ebirs786204727
HLIrs786204727
Exacrs786204727
Gnomadrs786204727
Varsomers786204727
LitVarrs786204727
Maprs786204727
PheGenIrs786204727
Biobankrs786204727
1000 genomesrs786204727
hgdprs786204727
ensemblrs786204727
geneviewrs786204727
scholarrs786204727
googlers786204727
pharmgkbrs786204727
gwascentralrs786204727
openSNPrs786204727
23andMers786204727
SNPshotrs786204727
SNPdbers786204727
MSV3drs786204727
GWAS Ctlgrs786204727
Max Magnitude0
ClinVar
Risk rs786204727(A;A)
Alt rs786204727(A;A)
Reference Rs786204727(-;-)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78086448dupA
CLNSRC
CLNACC RCV000169565.1,