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rs397517012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397517012(C;T)
Make rs397517012(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32822526
GenePKP2
is asnp
is mentioned by
dbSNPrs397517012
ebirs397517012
HLIrs397517012
Exacrs397517012
Varsomers397517012
Maprs397517012
PheGenIrs397517012
hapmaprs397517012
1000 genomesrs397517012
hgdprs397517012
ensemblrs397517012
gopubmedrs397517012
geneviewrs397517012
scholarrs397517012
googlers397517012
pharmgkbrs397517012
gwascentralrs397517012
openSNPrs397517012
23andMers397517012
23andMe allrs397517012
SNP Nexus

SNPshotrs397517012
SNPdbers397517012
MSV3drs397517012
GWAS Ctlgrs397517012
Max Magnitude0
ClinVar
Risk rs397517012(T;T)
Alt rs397517012(T;T)
Reference rs397517012(C;C)
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.32975460G>A
CLNSRC ClinVar
CLNACC RCV000038189.4, RCV000183763.1, RCV000211841.1,