rs120074149
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs120074149(G;G) |
| Make rs120074149(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 99717219 |
| Gene | VPS13B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074149 |
| dbSNP (classic) | rs120074149 |
| ClinGen | rs120074149 |
| ebi | rs120074149 |
| HLI | rs120074149 |
| Exac | rs120074149 |
| Gnomad | rs120074149 |
| Varsome | rs120074149 |
| LitVar | rs120074149 |
| Map | rs120074149 |
| PheGenI | rs120074149 |
| Biobank | rs120074149 |
| 1000 genomes | rs120074149 |
| hgdp | rs120074149 |
| ensembl | rs120074149 |
| geneview | rs120074149 |
| scholar | rs120074149 |
| rs120074149 | |
| pharmgkb | rs120074149 |
| gwascentral | rs120074149 |
| openSNP | rs120074149 |
| 23andMe | rs120074149 |
| SNPshot | rs120074149 |
| SNPdbe | rs120074149 |
| MSV3d | rs120074149 |
| GWAS Ctlg | rs120074149 |
| Max Magnitude | 0 |
| OMIM | 607817 |
| Desc | Cohen Syndrome |
| Variant | 0002 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs120074149(G;G) |
| Alt | rs120074149(G;G) |
| Reference | Rs120074149(T;T) |
| Significance | Pathogenic |
| Disease | Cohen syndrome |
| Variation | info |
| Gene | VPS13B |
| CLNDBN | Cohen syndrome |
| Reversed | 0 |
| HGVS | NC_000008.10:g.100729447T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002953.3, |
