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rs370950728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370950728(A;A)
Make rs370950728(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80105857
GeneGAA
is asnp
is mentioned by
dbSNPrs370950728
dbSNP (classic)rs370950728
ClinGenrs370950728
ebirs370950728
HLIrs370950728
Exacrs370950728
Gnomadrs370950728
Varsomers370950728
LitVarrs370950728
Maprs370950728
PheGenIrs370950728
Biobankrs370950728
1000 genomesrs370950728
hgdprs370950728
ensemblrs370950728
geneviewrs370950728
scholarrs370950728
googlers370950728
pharmgkbrs370950728
gwascentralrs370950728
openSNPrs370950728
23andMers370950728
SNPshotrs370950728
SNPdbers370950728
MSV3drs370950728
GWAS Ctlgrs370950728
Max Magnitude0
ClinVar
Risk rs370950728(A;A)
Alt rs370950728(A;A)
Reference Rs370950728(G;G)
Significance Other
Disease Glycogen storage disease not provided
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II not provided
Reversed 0
HGVS NC_000017.10:g.78079656G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169462.2, RCV000481943.1,