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rs786204549

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204549(-;-)
Make rs786204549(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80113317
GeneGAA
is asnp
is mentioned by
dbSNPrs786204549
ebirs786204549
HLIrs786204549
Exacrs786204549
Varsomers786204549
Maprs786204549
PheGenIrs786204549
hapmaprs786204549
1000 genomesrs786204549
hgdprs786204549
ensemblrs786204549
gopubmedrs786204549
geneviewrs786204549
scholarrs786204549
googlers786204549
pharmgkbrs786204549
gwascentralrs786204549
openSNPrs786204549
23andMers786204549
23andMe allrs786204549
SNP Nexus

SNPshotrs786204549
SNPdbers786204549
MSV3drs786204549
GWAS Ctlgrs786204549
Max Magnitude0
ClinVar
Risk rs786204549(;)
Alt rs786204549(;)
Reference rs786204549(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.78087116delC
CLNSRC
CLNACC RCV000169264.1,