rs377272752
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (D;D) | 0 | common genotype |
| (TCC;TCC) | 0 | common in clinvar |
| Make rs377272752(-;-) |
| Make rs377272752(-;CCT) |
| Make rs377272752(CCT;CCT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 18 |
| Position | 31069032 |
| Gene | DSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs377272752 |
| dbSNP (classic) | rs377272752 |
| ClinGen | rs377272752 |
| ebi | rs377272752 |
| HLI | rs377272752 |
| Exac | rs377272752 |
| Gnomad | rs377272752 |
| Varsome | rs377272752 |
| LitVar | rs377272752 |
| Map | rs377272752 |
| PheGenI | rs377272752 |
| Biobank | rs377272752 |
| 1000 genomes | rs377272752 |
| hgdp | rs377272752 |
| ensembl | rs377272752 |
| geneview | rs377272752 |
| scholar | rs377272752 |
| rs377272752 | |
| pharmgkb | rs377272752 |
| gwascentral | rs377272752 |
| openSNP | rs377272752 |
| 23andMe | rs377272752 |
| SNPshot | rs377272752 |
| SNPdbe | rs377272752 |
| MSV3d | rs377272752 |
| GWAS Ctlg | rs377272752 |
| Merged from | Rs786205360 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs377272752(TCC;TCC) |
| Significance | Probable-Pathogenic |
| Disease | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy |
| Variation | info |
| Gene | DSC2 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000018.9:g.28648998_28649000delTCC |
| CLNSRC | |
| CLNACC | RCV000157177.1, RCV000181173.1, |
