rs782460555
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs782460555(A;A) |
| Make rs782460555(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 41771784 |
| Gene | JUP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs782460555 |
| dbSNP (classic) | rs782460555 |
| ClinGen | rs782460555 |
| ebi | rs782460555 |
| HLI | rs782460555 |
| Exac | rs782460555 |
| Gnomad | rs782460555 |
| Varsome | rs782460555 |
| LitVar | rs782460555 |
| Map | rs782460555 |
| PheGenI | rs782460555 |
| Biobank | rs782460555 |
| 1000 genomes | rs782460555 |
| hgdp | rs782460555 |
| ensembl | rs782460555 |
| geneview | rs782460555 |
| scholar | rs782460555 |
| rs782460555 | |
| pharmgkb | rs782460555 |
| gwascentral | rs782460555 |
| openSNP | rs782460555 |
| 23andMe | rs782460555 |
| SNPshot | rs782460555 |
| SNPdbe | rs782460555 |
| MSV3d | rs782460555 |
| GWAS Ctlg | rs782460555 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs782460555(A;A) rs782460555(T;T) |
| Alt | rs782460555(A;A) rs782460555(T;T) |
| Reference | Rs782460555(G;G) |
| Significance | Pathogenic |
| Disease | not provided Naxos disease |
| Variation | info |
| Gene | JUP |
| CLNDBN | not provided Naxos disease |
| Reversed | 0 |
| HGVS | NC_000017.10:g.39928036G>A; NC_000017.10:g.39928036G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000183480.1, RCV000194470.2, |
