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rs138130157

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138130157(A;A)
Make rs138130157(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218828561
GenePRKAG3
is asnp
is mentioned by
dbSNPrs138130157
ebirs138130157
HLIrs138130157
Exacrs138130157
Varsomers138130157
Maprs138130157
PheGenIrs138130157
hapmaprs138130157
1000 genomesrs138130157
hgdprs138130157
ensemblrs138130157
gopubmedrs138130157
geneviewrs138130157
scholarrs138130157
googlers138130157
pharmgkbrs138130157
gwascentralrs138130157
openSNPrs138130157
23andMers138130157
23andMe allrs138130157
SNP Nexus

SNPshotrs138130157
SNPdbers138130157
MSV3drs138130157
GWAS Ctlgrs138130157
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs138130157(A;A)
Alt rs138130157(A;A)
Reference Rs138130157(G;G)
Significance Pathogenic
Disease Glycogen content in skeletal muscle
Variation info
Gene PRKAG3
CLNDBN Glycogen content in skeletal muscle, increased
Reversed 0
HGVS NC_000002.11:g.219693284G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005602.3,