Rs120074151
From SNPedia
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074151 |
| PheGenI | rs120074151 |
| nextbio | rs120074151 |
| hapmap | rs120074151 |
| 1000 genomes | rs120074151 |
| hgdp | rs120074151 |
| ensembl | rs120074151 |
| gopubmed | rs120074151 |
| geneview | rs120074151 |
| scholar | rs120074151 |
| rs120074151 | |
| pharmgkb | rs120074151 |
| gwascentral | rs120074151 |
| openSNP | rs120074151 |
| 23andMe | rs120074151 |
| 23andMe all | rs120074151 |
| SNP Nexus | |
| SNPshot | rs120074151 |
| SNPdbe | rs120074151 |
| MSV3d | rs120074151 |
| Gene | VPS13B |
| Chromosome | 8 |
| Orientation | plus |
| Position | 100523503 |
| Reference | GRCh37 37.1/132 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs120074151(G;T) |
| Make rs120074151(T;T) |
| OMIM | 607817 |
| Desc | Cohen Syndrome |
| Variant | 0005 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs120074151(T;T) |
| Normal | rs120074151(G;G) |
| Significance | 5 |
| Disease | Cohen syndrome |
| ClinVar | info |
| Gene | VPS13B |
| CLNDBN | Cohen syndrome |
| Reversed | 0 |
| CLNHGVS | NC_000008.10:g.100523503G>T |
| CLNSRC | OMIM Allelic Variant |