rs375679311
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs375679311(A;G) |
| Make rs375679311(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 18 |
| Position | 31536256 |
| Gene | DSG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375679311 |
| dbSNP (classic) | rs375679311 |
| ClinGen | rs375679311 |
| ebi | rs375679311 |
| HLI | rs375679311 |
| Exac | rs375679311 |
| Gnomad | rs375679311 |
| Varsome | rs375679311 |
| LitVar | rs375679311 |
| Map | rs375679311 |
| PheGenI | rs375679311 |
| Biobank | rs375679311 |
| 1000 genomes | rs375679311 |
| hgdp | rs375679311 |
| ensembl | rs375679311 |
| geneview | rs375679311 |
| scholar | rs375679311 |
| rs375679311 | |
| pharmgkb | rs375679311 |
| gwascentral | rs375679311 |
| openSNP | rs375679311 |
| 23andMe | rs375679311 |
| SNPshot | rs375679311 |
| SNPdbe | rs375679311 |
| MSV3d | rs375679311 |
| GWAS Ctlg | rs375679311 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375679311(G;G) |
| Alt | rs375679311(G;G) |
| Reference | Rs375679311(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not specified Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy |
| Variation | info |
| Gene | DSG2 |
| CLNDBN | not specified Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy, type 10 |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29116219A>G |
| CLNSRC | |
| CLNACC | RCV000150540.2, RCV000171832.2, RCV000246903.1, RCV000458560.1, |
