rs193922674
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| (G;G) | 0 | common in clinvar |
| Make rs193922674(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 32802557 |
| Gene | PKP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922674 |
| dbSNP (classic) | rs193922674 |
| ClinGen | rs193922674 |
| ebi | rs193922674 |
| HLI | rs193922674 |
| Exac | rs193922674 |
| Gnomad | rs193922674 |
| Varsome | rs193922674 |
| LitVar | rs193922674 |
| Map | rs193922674 |
| PheGenI | rs193922674 |
| Biobank | rs193922674 |
| 1000 genomes | rs193922674 |
| hgdp | rs193922674 |
| ensembl | rs193922674 |
| geneview | rs193922674 |
| scholar | rs193922674 |
| rs193922674 | |
| pharmgkb | rs193922674 |
| gwascentral | rs193922674 |
| openSNP | rs193922674 |
| 23andMe | rs193922674 |
| SNPshot | rs193922674 |
| SNPdbe | rs193922674 |
| MSV3d | rs193922674 |
| GWAS Ctlg | rs193922674 |
| Max Magnitude | 6.7 |
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.
