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rs786204517

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204517(C;T)
Make rs786204517(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80108569
GeneGAA
is asnp
is mentioned by
dbSNPrs786204517
ebirs786204517
HLIrs786204517
Exacrs786204517
Varsomers786204517
Maprs786204517
PheGenIrs786204517
hapmaprs786204517
1000 genomesrs786204517
hgdprs786204517
ensemblrs786204517
gopubmedrs786204517
geneviewrs786204517
scholarrs786204517
googlers786204517
pharmgkbrs786204517
gwascentralrs786204517
openSNPrs786204517
23andMers786204517
23andMe allrs786204517
SNP Nexus

SNPshotrs786204517
SNPdbers786204517
MSV3drs786204517
GWAS Ctlgrs786204517
Max Magnitude0
ClinVar
Risk rs786204517(T;T)
Alt rs786204517(T;T)
Reference rs786204517(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78082368C>T
CLNSRC
CLNACC RCV000169210.1,