Have questions? Visit https://www.reddit.com/r/SNPedia

rs397517264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517264(A;A)
Make rs397517264(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position151565729
GenePRKAG2
is asnp
is mentioned by
dbSNPrs397517264
dbSNP (classic)rs397517264
ClinGenrs397517264
ebirs397517264
HLIrs397517264
Exacrs397517264
Gnomadrs397517264
Varsomers397517264
LitVarrs397517264
Maprs397517264
PheGenIrs397517264
Biobankrs397517264
1000 genomesrs397517264
hgdprs397517264
ensemblrs397517264
geneviewrs397517264
scholarrs397517264
googlers397517264
pharmgkbrs397517264
gwascentralrs397517264
openSNPrs397517264
23andMers397517264
SNPshotrs397517264
SNPdbers397517264
MSV3drs397517264
GWAS Ctlgrs397517264
Max Magnitude0
ClinVar
Risk rs397517264(A;A)
Alt rs397517264(A;A)
Reference Rs397517264(G;G)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Glycogen storage disease of heart Wolff-Parkinson-White syndrome
Variation info
Gene PRKAG2
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Glycogen storage disease of heart, lethal congenital Wolff-Parkinson-White syndrome
Reversed 1
HGVS NC_000007.13:g.151262815C>T
CLNSRC ClinVar
CLNACC RCV000038916.5, RCV000208297.1, RCV000284911.1, RCV000338704.1, RCV000377013.1,