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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
ebirs397517021
HLIrs397517021
Exacrs397517021
Varsomers397517021
Maprs397517021
PheGenIrs397517021
hapmaprs397517021
1000 genomesrs397517021
hgdprs397517021
ensemblrs397517021
gopubmedrs397517021
geneviewrs397517021
scholarrs397517021
googlers397517021
pharmgkbrs397517021
gwascentralrs397517021
openSNPrs397517021
23andMers397517021
23andMe allrs397517021
SNP Nexus

SNPshotrs397517021
SNPdbers397517021
MSV3drs397517021
GWAS Ctlgrs397517021
Max Magnitude0
ClinVar
Risk rs397517021(G;G)
Alt rs397517021(G;G)
Reference rs397517021(CACACC;CACACC)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 9 not provided Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.32955434_32955439delGGTGTGinsC
CLNSRC ClinVar
CLNACC RCV000038203.5, RCV000183813.1, RCV000211842.1,