rs570878629
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs570878629(A;A) |
| Make rs570878629(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 17 |
| Position | 41771799 |
| Gene | JUP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs570878629 |
| dbSNP (classic) | rs570878629 |
| ClinGen | rs570878629 |
| ebi | rs570878629 |
| HLI | rs570878629 |
| Exac | rs570878629 |
| Gnomad | rs570878629 |
| Varsome | rs570878629 |
| LitVar | rs570878629 |
| Map | rs570878629 |
| PheGenI | rs570878629 |
| Biobank | rs570878629 |
| 1000 genomes | rs570878629 |
| hgdp | rs570878629 |
| ensembl | rs570878629 |
| geneview | rs570878629 |
| scholar | rs570878629 |
| rs570878629 | |
| pharmgkb | rs570878629 |
| gwascentral | rs570878629 |
| openSNP | rs570878629 |
| 23andMe | rs570878629 |
| SNPshot | rs570878629 |
| SNPdbe | rs570878629 |
| MSV3d | rs570878629 |
| GWAS Ctlg | rs570878629 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs570878629(A;A) |
| Alt | rs570878629(A;A) |
| Reference | Rs570878629(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified Cardiovascular phenotype Naxos disease Cardiomyopathy not provided |
| Variation | info |
| Gene | JUP |
| CLNDBN | not specified Cardiovascular phenotype Naxos disease Cardiomyopathy, ARVC not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.39928051G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000156554.2, RCV000253975.1, RCV000315534.1, RCV000393399.1, RCV000484762.1, |
