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

rs397517283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517283(A;A)
Make rs397517283(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position151574929
GenePRKAG2
is asnp
is mentioned by
dbSNPrs397517283
dbSNP (classic)rs397517283
ClinGenrs397517283
ebirs397517283
HLIrs397517283
Exacrs397517283
Gnomadrs397517283
Varsomers397517283
LitVarrs397517283
Maprs397517283
PheGenIrs397517283
Biobankrs397517283
1000 genomesrs397517283
hgdprs397517283
ensemblrs397517283
geneviewrs397517283
scholarrs397517283
googlers397517283
pharmgkbrs397517283
gwascentralrs397517283
openSNPrs397517283
23andMers397517283
SNPshotrs397517283
SNPdbers397517283
MSV3drs397517283
GWAS Ctlgrs397517283
Max Magnitude0
ClinVar
Risk rs397517283(A;A) rs397517283(G;G)
Alt rs397517283(A;A) rs397517283(G;G)
Reference Rs397517283(T;T)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene PRKAG2
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000007.13:g.151272015A>T
CLNSRC ClinVar
CLNACC RCV000038962.2,