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rs397517005

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 6.7 Arrhythmogenic right ventricular dysplasia
(C;C) 0 common in clinvar


Make rs397517005(-;-)
ReferenceGRCh38 38.1/141
Chromosome12
Position32824142
GenePKP2
is asnp
is mentioned by
dbSNPrs397517005
dbSNP (classic)rs397517005
ClinGenrs397517005
ebirs397517005
HLIrs397517005
Exacrs397517005
Gnomadrs397517005
Varsomers397517005
LitVarrs397517005
Maprs397517005
PheGenIrs397517005
Biobankrs397517005
1000 genomesrs397517005
hgdprs397517005
ensemblrs397517005
geneviewrs397517005
scholarrs397517005
googlers397517005
pharmgkbrs397517005
gwascentralrs397517005
openSNPrs397517005
23andMers397517005
SNPshotrs397517005
SNPdbers397517005
MSV3drs397517005
GWAS Ctlgrs397517005
Max Magnitude6.7
ClinVar
Risk rs397517005(-;-)
Alt rs397517005(-;-)
Reference Rs397517005(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.32977076delG
CLNSRC ClinVar
CLNACC RCV000038180.2,