rs111517471
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| Make rs111517471(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 32796108 |
| Gene | PKP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111517471 |
| dbSNP (classic) | rs111517471 |
| ClinGen | rs111517471 |
| ebi | rs111517471 |
| HLI | rs111517471 |
| Exac | rs111517471 |
| Gnomad | rs111517471 |
| Varsome | rs111517471 |
| LitVar | rs111517471 |
| Map | rs111517471 |
| PheGenI | rs111517471 |
| Biobank | rs111517471 |
| 1000 genomes | rs111517471 |
| hgdp | rs111517471 |
| ensembl | rs111517471 |
| geneview | rs111517471 |
| scholar | rs111517471 |
| rs111517471 | |
| pharmgkb | rs111517471 |
| gwascentral | rs111517471 |
| openSNP | rs111517471 |
| 23andMe | rs111517471 |
| SNPshot | rs111517471 |
| SNPdbe | rs111517471 |
| MSV3d | rs111517471 |
| GWAS Ctlg | rs111517471 |
| Max Magnitude | 6.7 |
| ClinVar | |
|---|---|
| Risk | rs111517471(A;A) rs111517471(G;G) rs111517471(T;T) |
| Alt | rs111517471(A;A) rs111517471(G;G) rs111517471(T;T) |
| Reference | Rs111517471(C;C) |
| Significance | Other |
| Disease | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | PKP2 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy, type 9 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.32949042C>A; NC_000012.11:g.32949042C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000038212.2, RCV000183715.1, RCV000007149.6, RCV000157417.1, RCV000183714.4, |
