rs782091454
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs782091454(A;G) |
| Make rs782091454(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 41767470 |
| Gene | JUP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs782091454 |
| dbSNP (classic) | rs782091454 |
| ClinGen | rs782091454 |
| ebi | rs782091454 |
| HLI | rs782091454 |
| Exac | rs782091454 |
| Gnomad | rs782091454 |
| Varsome | rs782091454 |
| LitVar | rs782091454 |
| Map | rs782091454 |
| PheGenI | rs782091454 |
| Biobank | rs782091454 |
| 1000 genomes | rs782091454 |
| hgdp | rs782091454 |
| ensembl | rs782091454 |
| geneview | rs782091454 |
| scholar | rs782091454 |
| rs782091454 | |
| pharmgkb | rs782091454 |
| gwascentral | rs782091454 |
| openSNP | rs782091454 |
| 23andMe | rs782091454 |
| SNPshot | rs782091454 |
| SNPdbe | rs782091454 |
| MSV3d | rs782091454 |
| GWAS Ctlg | rs782091454 |
| Merged from | Rs794729053 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs782091454(G;G) |
| Alt | rs782091454(G;G) |
| Reference | Rs782091454(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Naxos disease Cardiomyopathy |
| Variation | info |
| Gene | JUP |
| CLNDBN | Naxos disease Cardiomyopathy, ARVC |
| Reversed | 0 |
| HGVS | NC_000017.10:g.39923722A>G |
| CLNSRC | |
| CLNACC | RCV000313301.1, RCV000370239.1, |
