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rs397517021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CACACC;CACACC) 0 common in clinvar
Make rs397517021(CACACC;G)
Make rs397517021(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position32802500
GenePKP2
is asnp
is mentioned by
dbSNPrs397517021
dbSNP (classic)rs397517021
ClinGenrs397517021
ebirs397517021
HLIrs397517021
Exacrs397517021
Gnomadrs397517021
Varsomers397517021
LitVarrs397517021
Maprs397517021
PheGenIrs397517021
Biobankrs397517021
1000 genomesrs397517021
hgdprs397517021
ensemblrs397517021
geneviewrs397517021
scholarrs397517021
googlers397517021
pharmgkbrs397517021
gwascentralrs397517021
openSNPrs397517021
23andMers397517021
SNPshotrs397517021
SNPdbers397517021
MSV3drs397517021
GWAS Ctlgrs397517021
Max Magnitude0
ClinVar
Risk rs397517021(G;G)
Alt rs397517021(G;G)
Reference Rs397517021(CACACC;CACACC)
Significance Pathogenic
Disease not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype
Variation info
Gene PKP2
CLNDBN not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000012.11:g.32955434_32955439delGGTGTGinsC
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000183813.3, RCV000211842.2, RCV000247451.1,