rs113994176
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs113994176(-;GCA) |
| Make rs113994176(GCA;GCA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 41771736 |
| Gene | JUP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113994176 |
| dbSNP (classic) | rs113994176 |
| ClinGen | rs113994176 |
| ebi | rs113994176 |
| HLI | rs113994176 |
| Exac | rs113994176 |
| Gnomad | rs113994176 |
| Varsome | rs113994176 |
| LitVar | rs113994176 |
| Map | rs113994176 |
| PheGenI | rs113994176 |
| Biobank | rs113994176 |
| 1000 genomes | rs113994176 |
| hgdp | rs113994176 |
| ensembl | rs113994176 |
| geneview | rs113994176 |
| scholar | rs113994176 |
| rs113994176 | |
| pharmgkb | rs113994176 |
| gwascentral | rs113994176 |
| openSNP | rs113994176 |
| 23andMe | rs113994176 |
| SNPshot | rs113994176 |
| SNPdbe | rs113994176 |
| MSV3d | rs113994176 |
| GWAS Ctlg | rs113994176 |
| Max Magnitude | 0 |
[PMID 17924338
] A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.
| ClinVar | |
|---|---|
| Risk | rs113994176(GCA;GCA) |
| Alt | rs113994176(GCA;GCA) |
| Reference | Rs113994176(-;-) |
| Significance | Pathogenic |
| Disease | Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | JUP |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 12 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.39927989_39927991dupTGC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014570.20, |
