rs762738069
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs762738069(A;C) |
| Make rs762738069(C;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 219418761 |
| Gene | DES |
| is a | snp |
| is | mentioned by |
| dbSNP | rs762738069 |
| dbSNP (classic) | rs762738069 |
| ClinGen | rs762738069 |
| ebi | rs762738069 |
| HLI | rs762738069 |
| Exac | rs762738069 |
| Gnomad | rs762738069 |
| Varsome | rs762738069 |
| LitVar | rs762738069 |
| Map | rs762738069 |
| PheGenI | rs762738069 |
| Biobank | rs762738069 |
| 1000 genomes | rs762738069 |
| hgdp | rs762738069 |
| ensembl | rs762738069 |
| geneview | rs762738069 |
| scholar | rs762738069 |
| rs762738069 | |
| pharmgkb | rs762738069 |
| gwascentral | rs762738069 |
| openSNP | rs762738069 |
| 23andMe | rs762738069 |
| SNPshot | rs762738069 |
| SNPdbe | rs762738069 |
| MSV3d | rs762738069 |
| GWAS Ctlg | rs762738069 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs762738069(C;C) |
| Alt | rs762738069(C;C) |
| Reference | Rs762738069(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | DES |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000002.11:g.220283483A>C |
| CLNSRC | |
| CLNACC | RCV000183368.2, |
