rs730882215
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs730882215(A;A) |
| Make rs730882215(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 16 |
| Position | 78424869 |
| Gene | WWOX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730882215 |
| dbSNP (classic) | rs730882215 |
| ClinGen | rs730882215 |
| ebi | rs730882215 |
| HLI | rs730882215 |
| Exac | rs730882215 |
| Gnomad | rs730882215 |
| Varsome | rs730882215 |
| LitVar | rs730882215 |
| Map | rs730882215 |
| PheGenI | rs730882215 |
| Biobank | rs730882215 |
| 1000 genomes | rs730882215 |
| hgdp | rs730882215 |
| ensembl | rs730882215 |
| geneview | rs730882215 |
| scholar | rs730882215 |
| rs730882215 | |
| pharmgkb | rs730882215 |
| gwascentral | rs730882215 |
| openSNP | rs730882215 |
| 23andMe | rs730882215 |
| SNPshot | rs730882215 |
| SNPdbe | rs730882215 |
| MSV3d | rs730882215 |
| GWAS Ctlg | rs730882215 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs730882215(A;A) |
| Alt | rs730882215(A;A) |
| Reference | Rs730882215(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Abnormal facial shape Brain atrophy Global developmental delay Epileptic encephalopathy |
| Variation | info |
| Gene | WWOX |
| CLNDBN | Abnormal facial shape Brain atrophy Global developmental delay Epileptic encephalopathy, early infantile, 28 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.78458766G>A |
| CLNSRC | |
| CLNACC | RCV000162124.1, RCV000408849.1, |
