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rs747610090

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs747610090(A;A)
Make rs747610090(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80108818
GeneGAA
is asnp
is mentioned by
dbSNPrs747610090
dbSNP (classic)rs747610090
ClinGenrs747610090
ebirs747610090
HLIrs747610090
Exacrs747610090
Gnomadrs747610090
Varsomers747610090
LitVarrs747610090
Maprs747610090
PheGenIrs747610090
Biobankrs747610090
1000 genomesrs747610090
hgdprs747610090
ensemblrs747610090
geneviewrs747610090
scholarrs747610090
googlers747610090
pharmgkbrs747610090
gwascentralrs747610090
openSNPrs747610090
23andMers747610090
SNPshotrs747610090
SNPdbers747610090
MSV3drs747610090
GWAS Ctlgrs747610090
Max Magnitude0
ClinVar
Risk rs747610090(A;A)
Alt rs747610090(A;A)
Reference Rs747610090(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.78082617T>A
CLNSRC
CLNACC RCV000410956.1,