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rs193922673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922673(A;A)
Make rs193922673(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position32821473
GenePKP2
is asnp
is mentioned by
dbSNPrs193922673
ebirs193922673
HLIrs193922673
Exacrs193922673
Varsomers193922673
Maprs193922673
PheGenIrs193922673
hapmaprs193922673
1000 genomesrs193922673
hgdprs193922673
ensemblrs193922673
gopubmedrs193922673
geneviewrs193922673
scholarrs193922673
googlers193922673
pharmgkbrs193922673
gwascentralrs193922673
openSNPrs193922673
23andMers193922673
23andMe allrs193922673
SNP Nexus

SNPshotrs193922673
SNPdbers193922673
MSV3drs193922673
GWAS Ctlgrs193922673
Max Magnitude0
ClinVar
Risk rs193922673(A;A)
Alt rs193922673(A;A)
Reference rs193922673(G;G)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.32974407C>T
CLNSRC ClinVar
CLNACC RCV000030361.1,


[PMID 16567567] Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.


[PMID 18382419OA-icon.png] Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.


[PMID 20031616] Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.