rs767643821
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs767643821(C;T) |
| Make rs767643821(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 7579995 |
| Gene | DSP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs767643821 |
| dbSNP (classic) | rs767643821 |
| ClinGen | rs767643821 |
| ebi | rs767643821 |
| HLI | rs767643821 |
| Exac | rs767643821 |
| Gnomad | rs767643821 |
| Varsome | rs767643821 |
| LitVar | rs767643821 |
| Map | rs767643821 |
| PheGenI | rs767643821 |
| Biobank | rs767643821 |
| 1000 genomes | rs767643821 |
| hgdp | rs767643821 |
| ensembl | rs767643821 |
| geneview | rs767643821 |
| scholar | rs767643821 |
| rs767643821 | |
| pharmgkb | rs767643821 |
| gwascentral | rs767643821 |
| openSNP | rs767643821 |
| 23andMe | rs767643821 |
| SNPshot | rs767643821 |
| SNPdbe | rs767643821 |
| MSV3d | rs767643821 |
| GWAS Ctlg | rs767643821 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs767643821(A;A) rs767643821(T;T) |
| Alt | rs767643821(A;A) rs767643821(T;T) |
| Reference | Rs767643821(C;C) |
| Significance | Pathogenic |
| Disease | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma not provided |
| Variation | info |
| Gene | DSP |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma not provided |
| Reversed | 0 |
| HGVS | NC_000006.11:g.7580228C>A; NC_000006.11:g.7580228C>T |
| CLNSRC | |
| CLNACC | RCV000236353.1, RCV000181316.2, |
