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rs397517017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.7 Arrhythmogenic right ventricular dysplasia
Make rs397517017(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32821382
GenePKP2
is asnp
is mentioned by
dbSNPrs397517017
dbSNP (classic)rs397517017
ClinGenrs397517017
ebirs397517017
HLIrs397517017
Exacrs397517017
Gnomadrs397517017
Varsomers397517017
LitVarrs397517017
Maprs397517017
PheGenIrs397517017
Biobankrs397517017
1000 genomesrs397517017
hgdprs397517017
ensemblrs397517017
geneviewrs397517017
scholarrs397517017
googlers397517017
pharmgkbrs397517017
gwascentralrs397517017
openSNPrs397517017
23andMers397517017
SNPshotrs397517017
SNPdbers397517017
MSV3drs397517017
GWAS Ctlgrs397517017
Max Magnitude6.7
ClinVar
Risk rs397517017(T;T)
Alt rs397517017(T;T)
Reference Rs397517017(C;C)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.32974316G>A
CLNSRC ClinVar
CLNACC RCV000038199.2,