rs113994177
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TG;TG) | 0 | common in complete genomics |
| Make rs113994177(-;-) |
| Make rs113994177(-;TG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 41757422 |
| Gene | JUP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113994177 |
| dbSNP (classic) | rs113994177 |
| ClinGen | rs113994177 |
| ebi | rs113994177 |
| HLI | rs113994177 |
| Exac | rs113994177 |
| Gnomad | rs113994177 |
| Varsome | rs113994177 |
| LitVar | rs113994177 |
| Map | rs113994177 |
| PheGenI | rs113994177 |
| Biobank | rs113994177 |
| 1000 genomes | rs113994177 |
| hgdp | rs113994177 |
| ensembl | rs113994177 |
| geneview | rs113994177 |
| scholar | rs113994177 |
| rs113994177 | |
| pharmgkb | rs113994177 |
| gwascentral | rs113994177 |
| openSNP | rs113994177 |
| 23andMe | rs113994177 |
| SNPshot | rs113994177 |
| SNPdbe | rs113994177 |
| MSV3d | rs113994177 |
| GWAS Ctlg | rs113994177 |
| Max Magnitude | 0 |
[PMID 10902626] Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
| ClinVar | |
|---|---|
| Risk | rs113994177(-;-) |
| Alt | rs113994177(-;-) |
| Reference | Rs113994177(TG;TG) |
| Significance | Pathogenic |
| Disease | Naxos disease not provided |
| Variation | info |
| Gene | JUP |
| CLNDBN | Naxos disease not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.39913674_39913675delCA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014569.21, RCV000481302.1, |
