Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 3.5 right ventricular dysfunction possible; see discussion
(G;G) 0 common in clinvar


Make rs193922674(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position32802557
GenePKP2
is asnp
is mentioned by
dbSNPrs193922674
dbSNP (classic)rs193922674
ClinGenrs193922674
ebirs193922674
HLIrs193922674
Exacrs193922674
Gnomadrs193922674
Varsomers193922674
LitVarrs193922674
Maprs193922674
PheGenIrs193922674
Biobankrs193922674
1000 genomesrs193922674
hgdprs193922674
ensemblrs193922674
geneviewrs193922674
scholarrs193922674
googlers193922674
pharmgkbrs193922674
gwascentralrs193922674
openSNPrs193922674
23andMers193922674
23andMe allrs193922674
SNPshotrs193922674
SNPdbers193922674
MSV3drs193922674
GWAS Ctlgrs193922674
Max Magnitude3.5

aka c.2146-1G>C

The variant rs193922674 allele is reported as pathogenic for ARVD type 9 in ClinVar by one source, acting in a dominant manner.

[PMID 29997392] Without naming the company that produced the data, this paper cites one example of a false positive finding for this SNP in direct-to-consumer genotyping data.

See also: OMIM 601861.0003

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 Cardiovascular phenotype
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 9 Arrhythmogenic right ventricular cardiomyopathy not provided Cardiovascular phenotype
Reversed 1
HGVS NC_000012.11:g.32955491C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007148.7, RCV000054811.7, RCV000183771.3, RCV000252055.1,


[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.