rs199526104
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199526104(C;C) |
| Make rs199526104(C;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 14139244 |
| Gene | TMEM43 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199526104 |
| dbSNP (classic) | rs199526104 |
| ClinGen | rs199526104 |
| ebi | rs199526104 |
| HLI | rs199526104 |
| Exac | rs199526104 |
| Gnomad | rs199526104 |
| Varsome | rs199526104 |
| LitVar | rs199526104 |
| Map | rs199526104 |
| PheGenI | rs199526104 |
| Biobank | rs199526104 |
| 1000 genomes | rs199526104 |
| hgdp | rs199526104 |
| ensembl | rs199526104 |
| geneview | rs199526104 |
| scholar | rs199526104 |
| rs199526104 | |
| pharmgkb | rs199526104 |
| gwascentral | rs199526104 |
| openSNP | rs199526104 |
| 23andMe | rs199526104 |
| SNPshot | rs199526104 |
| SNPdbe | rs199526104 |
| MSV3d | rs199526104 |
| GWAS Ctlg | rs199526104 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199526104(C;C) |
| Alt | rs199526104(C;C) |
| Reference | Rs199526104(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | TMEM43 |
| CLNDBN | not specified Arrhythmogenic right ventricular cardiomyopathy, type 5 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.14180744G>C |
| CLNSRC | |
| CLNACC | RCV000039395.3, RCV000457565.1, |
