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rs786204561

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204561(A;A)
Make rs786204561(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80118359
GeneGAA
is asnp
is mentioned by
dbSNPrs786204561
ebirs786204561
HLIrs786204561
Exacrs786204561
Varsomers786204561
Maprs786204561
PheGenIrs786204561
hapmaprs786204561
1000 genomesrs786204561
hgdprs786204561
ensemblrs786204561
gopubmedrs786204561
geneviewrs786204561
scholarrs786204561
googlers786204561
pharmgkbrs786204561
gwascentralrs786204561
openSNPrs786204561
23andMers786204561
23andMe allrs786204561
SNP Nexus

SNPshotrs786204561
SNPdbers786204561
MSV3drs786204561
GWAS Ctlgrs786204561
Max Magnitude0
ClinVar
Risk rs786204561(A;A)
Alt rs786204561(A;A)
Reference rs786204561(T;T)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78092158T>A
CLNSRC
CLNACC RCV000169291.1,