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rs786204645

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204645(C;T)
Make rs786204645(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80113281
GeneGAA
is asnp
is mentioned by
dbSNPrs786204645
ebirs786204645
HLIrs786204645
Exacrs786204645
Varsomers786204645
Maprs786204645
PheGenIrs786204645
hapmaprs786204645
1000 genomesrs786204645
hgdprs786204645
ensemblrs786204645
gopubmedrs786204645
geneviewrs786204645
scholarrs786204645
googlers786204645
pharmgkbrs786204645
gwascentralrs786204645
openSNPrs786204645
23andMers786204645
23andMe allrs786204645
SNP Nexus

SNPshotrs786204645
SNPdbers786204645
MSV3drs786204645
GWAS Ctlgrs786204645
Max Magnitude0
ClinVar
Risk rs786204645(T;T)
Alt rs786204645(T;T)
Reference rs786204645(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.78087080C>T
CLNSRC
CLNACC RCV000169431.1,