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rs193922674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922674(C;C)
Make rs193922674(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position32802557
GenePKP2
is asnp
is mentioned by
dbSNPrs193922674
ebirs193922674
HLIrs193922674
Exacrs193922674
Varsomers193922674
Maprs193922674
PheGenIrs193922674
hapmaprs193922674
1000 genomesrs193922674
hgdprs193922674
ensemblrs193922674
gopubmedrs193922674
geneviewrs193922674
scholarrs193922674
googlers193922674
pharmgkbrs193922674
gwascentralrs193922674
openSNPrs193922674
23andMers193922674
23andMe allrs193922674
SNP Nexus

SNPshotrs193922674
SNPdbers193922674
MSV3drs193922674
GWAS Ctlgrs193922674
Max Magnitude0
ClinVar
Risk rs193922674(C;C)
Alt rs193922674(C;C)
Reference rs193922674(G;G)
Significance Other
Disease Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy not provided
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 9 Arrhythmogenic right ventricular cardiomyopathy not provided
Reversed 1
HGVS NC_000012.11:g.32955491C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007148.5, RCV000054811.6, RCV000183771.1,


[PMID 18382] Ditazole and platelets. II. Effect of ditazole on in vivo platelet aggregation and bleeding time 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 19279339] A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

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

[PMID 19880068] Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.