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rs786204720

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204720(C;C)
Make rs786204720(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80110945
GeneGAA
is asnp
is mentioned by
dbSNPrs786204720
ebirs786204720
HLIrs786204720
Exacrs786204720
Varsomers786204720
Maprs786204720
PheGenIrs786204720
hapmaprs786204720
1000 genomesrs786204720
hgdprs786204720
ensemblrs786204720
gopubmedrs786204720
geneviewrs786204720
scholarrs786204720
googlers786204720
pharmgkbrs786204720
gwascentralrs786204720
openSNPrs786204720
23andMers786204720
23andMe allrs786204720
SNP Nexus

SNPshotrs786204720
SNPdbers786204720
MSV3drs786204720
GWAS Ctlgrs786204720
Max Magnitude0
ClinVar
Risk rs786204720(C;C)
Alt rs786204720(C;C)
Reference rs786204720(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.78084744T>C
CLNSRC
CLNACC RCV000169538.1,