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rs730882148

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882148(C;C)
Make rs730882148(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position151568798
GenePRKAG2
is asnp
is mentioned by
dbSNPrs730882148
ebirs730882148
HLIrs730882148
Exacrs730882148
Varsomers730882148
Maprs730882148
PheGenIrs730882148
hapmaprs730882148
1000 genomesrs730882148
hgdprs730882148
ensemblrs730882148
gopubmedrs730882148
geneviewrs730882148
scholarrs730882148
googlers730882148
pharmgkbrs730882148
gwascentralrs730882148
openSNPrs730882148
23andMers730882148
23andMe allrs730882148
SNP Nexus

SNPshotrs730882148
SNPdbers730882148
MSV3drs730882148
GWAS Ctlgrs730882148
Max Magnitude0
ClinVar
Risk rs730882148(C;C)
Alt rs730882148(C;C)
Reference rs730882148(G;G)
Significance Pathogenic
Disease Glycogen storage disease of heart
Variation info
Gene PRKAG2
CLNDBN Glycogen storage disease of heart, lethal congenital
Reversed 1
HGVS NC_000007.13:g.151265884C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000162026.3,