rs121434421
A SNP in the PKP2 gene on chromosome 12. Its most notable genotype is A;G: Arrhythmogenic right ventricular dysplasia
- Gene
- PKP2
- Location
- Chr 1232,802,499 (GRCh38)
- Highest magnitude
- 6.7Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableBadArrhythmogenic right ventricular dysplasia
SNPedia records rs121434421 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other PKP2 SNPs
- rs78897684C;GArrhythmogenic right ventricular dysplasiaVery important
- rs111517471A;CArrhythmogenic right ventricular dysplasiaVery important
- rs121434420A;GArrhythmogenic right ventricular dysplasiaVery important
- rs193922674C;GArrhythmogenic right ventricular dysplasiaVery important
- rs372827156A;GArrhythmogenic right ventricular dysplasiaVery important
- rs397516986A;GArrhythmogenic right ventricular dysplasiaVery important
- rs397516989-;AArrhythmogenic right ventricular dysplasiaVery important
- rs397516990A;GArrhythmogenic right ventricular dysplasiaVery important
Notes
From SNPedia
Notes
rs121434421, also known as c.2203C>T, p.Arg735Ter and R735X, is a rare mutation in the PKP2 gene on chromosome 12. The rs121434421(T) allele is reported as pathogenic for ARVD type 9 in ClinVar by two sources, acting in a dominant manner. Additionally, mice engineered to contain this mutation exhibit right ventricular dysfunction resembling the ARVD phenotype when subjected to endurance exercising. See also OMIM 602861.0002
Source and license
Adapted from rs121434421 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.