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rs193922672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922672(A;A)
Make rs193922672(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position32841103
GenePKP2
is asnp
is mentioned by
dbSNPrs193922672
ebirs193922672
HLIrs193922672
Exacrs193922672
Varsomers193922672
Maprs193922672
PheGenIrs193922672
hapmaprs193922672
1000 genomesrs193922672
hgdprs193922672
ensemblrs193922672
gopubmedrs193922672
geneviewrs193922672
scholarrs193922672
googlers193922672
pharmgkbrs193922672
gwascentralrs193922672
openSNPrs193922672
23andMers193922672
23andMe allrs193922672
SNP Nexus

SNPshotrs193922672
SNPdbers193922672
MSV3drs193922672
GWAS Ctlgrs193922672
Max Magnitude0
ClinVar
Risk rs193922672(A;A)
Alt rs193922672(A;A)
Reference rs193922672(G;G)
Significance Other
Disease Arrhythmogenic right ventricular cardiomyopathy not provided
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy not provided
Reversed 1
HGVS NC_000012.11:g.32994037C>T
CLNSRC ClinVar
CLNACC RCV000030359.5, RCV000183748.2,


[PMID 20857] Interaction of drugs with apomorphine, tryptamine and norepinephrine. A new 'in vivo' approach: the ATN-test in rats.


[PMID 16549640] Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.


[PMID 17010805] Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.


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


[PMID 19358943] Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.


[PMID 19863551] Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.