rs144263721
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs144263721(C;C) |
| Make rs144263721(C;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 7583581 |
| Gene | DSP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144263721 |
| dbSNP (classic) | rs144263721 |
| ClinGen | rs144263721 |
| ebi | rs144263721 |
| HLI | rs144263721 |
| Exac | rs144263721 |
| Gnomad | rs144263721 |
| Varsome | rs144263721 |
| LitVar | rs144263721 |
| Map | rs144263721 |
| PheGenI | rs144263721 |
| Biobank | rs144263721 |
| 1000 genomes | rs144263721 |
| hgdp | rs144263721 |
| ensembl | rs144263721 |
| geneview | rs144263721 |
| scholar | rs144263721 |
| rs144263721 | |
| pharmgkb | rs144263721 |
| gwascentral | rs144263721 |
| openSNP | rs144263721 |
| 23andMe | rs144263721 |
| SNPshot | rs144263721 |
| SNPdbe | rs144263721 |
| MSV3d | rs144263721 |
| GWAS Ctlg | rs144263721 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs144263721(C;C) |
| Alt | rs144263721(C;C) |
| Reference | Rs144263721(G;G) |
| Significance | Pathogenic |
| Disease | not specified Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma |
| Variation | info |
| Gene | DSP |
| CLNDBN | not specified Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma |
| Reversed | 0 |
| HGVS | NC_000006.11:g.7583814G>C |
| CLNSRC | |
| CLNACC | RCV000181388.3, RCV000472720.1, |
