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rs397517025

From SNPedia

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


Make rs397517025(-;-)
ReferenceGRCh38 38.1/141
Chromosome12
Position32878984
GenePKP2
is asnp
is mentioned by
dbSNPrs397517025
dbSNP (classic)rs397517025
ClinGenrs397517025
ebirs397517025
HLIrs397517025
Exacrs397517025
Gnomadrs397517025
Varsomers397517025
LitVarrs397517025
Maprs397517025
PheGenIrs397517025
Biobankrs397517025
1000 genomesrs397517025
hgdprs397517025
ensemblrs397517025
geneviewrs397517025
scholarrs397517025
googlers397517025
pharmgkbrs397517025
gwascentralrs397517025
openSNPrs397517025
23andMers397517025
SNPshotrs397517025
SNPdbers397517025
MSV3drs397517025
GWAS Ctlgrs397517025
Max Magnitude6.7
ClinVar
Risk rs397517025(-;-)
Alt rs397517025(-;-)
Reference Rs397517025(TACA;TACA)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy Ventricular tachycardia
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy Ventricular tachycardia
Reversed 1
HGVS NC_000012.11:g.33031918_33031921delTGTA
CLNSRC ClinVar
CLNACC RCV000038216.2, RCV000415162.1,