rs193922674

A SNP in the PKP2 gene on chromosome 12. Its most notable genotype is C;G: Arrhythmogenic right ventricular dysplasia

Gene
PKP2
Location
Chr 1232,802,557 (GRCh38)
Highest magnitude
6.7Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;GMost notableBadArrhythmogenic right ventricular dysplasiaVery important · 6.7
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs193922674 on the minus strand: (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other PKP2 SNPs

All PKP2 SNPs

Notes

From SNPedia

Show notes, about 180 words

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. 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 Ditazole and platelets. II. Effect of ditazole on in vivo platelet aggregation and bleeding time in rats. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.

Source and license

Adapted from rs193922674 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.