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rs786204646

From SNPedia

Orientationplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs786204646(C;C)
Make rs786204646(C;GG)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80108541
GeneGAA
is asnp
is mentioned by
dbSNPrs786204646
ebirs786204646
HLIrs786204646
Exacrs786204646
Varsomers786204646
Maprs786204646
PheGenIrs786204646
hapmaprs786204646
1000 genomesrs786204646
hgdprs786204646
ensemblrs786204646
gopubmedrs786204646
geneviewrs786204646
scholarrs786204646
googlers786204646
pharmgkbrs786204646
gwascentralrs786204646
openSNPrs786204646
23andMers786204646
23andMe allrs786204646
SNP Nexus

SNPshotrs786204646
SNPdbers786204646
MSV3drs786204646
GWAS Ctlgrs786204646
Max Magnitude0
ClinVar
Risk rs786204646(C;C)
Alt rs786204646(C;C)
Reference rs786204646(GG;GG)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78082340_78082341delGGinsC
CLNSRC
CLNACC RCV000169433.1,