rs778127887
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| Make rs778127887(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 3 |
| Position | 14141613 |
| Gene | TMEM43 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs778127887 |
| dbSNP (classic) | rs778127887 |
| ClinGen | rs778127887 |
| ebi | rs778127887 |
| HLI | rs778127887 |
| Exac | rs778127887 |
| Gnomad | rs778127887 |
| Varsome | rs778127887 |
| LitVar | rs778127887 |
| Map | rs778127887 |
| PheGenI | rs778127887 |
| Biobank | rs778127887 |
| 1000 genomes | rs778127887 |
| hgdp | rs778127887 |
| ensembl | rs778127887 |
| geneview | rs778127887 |
| scholar | rs778127887 |
| rs778127887 | |
| pharmgkb | rs778127887 |
| gwascentral | rs778127887 |
| openSNP | rs778127887 |
| 23andMe | rs778127887 |
| SNPshot | rs778127887 |
| SNPdbe | rs778127887 |
| MSV3d | rs778127887 |
| GWAS Ctlg | rs778127887 |
| Max Magnitude | 6.7 |
| ClinVar | |
|---|---|
| Risk | rs778127887(T;T) |
| Alt | rs778127887(T;T) |
| Reference | Rs778127887(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Cardiomyopathy |
| Variation | info |
| Gene | TMEM43 |
| CLNDBN | Cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000003.11:g.14183113C>T |
| CLNSRC | |
| CLNACC | RCV000201506.1, |
