rs750176752
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| (G;G) | 0 | common in clinvar |
| Make rs750176752(A;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 18 |
| Position | 31522250 |
| Gene | DSG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs750176752 |
| dbSNP (classic) | rs750176752 |
| ClinGen | rs750176752 |
| ebi | rs750176752 |
| HLI | rs750176752 |
| Exac | rs750176752 |
| Gnomad | rs750176752 |
| Varsome | rs750176752 |
| LitVar | rs750176752 |
| Map | rs750176752 |
| PheGenI | rs750176752 |
| Biobank | rs750176752 |
| 1000 genomes | rs750176752 |
| hgdp | rs750176752 |
| ensembl | rs750176752 |
| geneview | rs750176752 |
| scholar | rs750176752 |
| rs750176752 | |
| pharmgkb | rs750176752 |
| gwascentral | rs750176752 |
| openSNP | rs750176752 |
| 23andMe | rs750176752 |
| SNPshot | rs750176752 |
| SNPdbe | rs750176752 |
| MSV3d | rs750176752 |
| GWAS Ctlg | rs750176752 |
| Max Magnitude | 6.7 |
| ClinVar | |
|---|---|
| Risk | rs750176752(A;A) |
| Alt | rs750176752(A;A) |
| Reference | Rs750176752(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | DSG2 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 10 |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29102213G>A |
| CLNSRC | |
| CLNACC | RCV000473344.1, |
