rs111724246
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111724246(G;T) |
| Make rs111724246(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 144404063 |
| Gene | ZEB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111724246 |
| dbSNP (classic) | rs111724246 |
| ClinGen | rs111724246 |
| ebi | rs111724246 |
| HLI | rs111724246 |
| Exac | rs111724246 |
| Gnomad | rs111724246 |
| Varsome | rs111724246 |
| LitVar | rs111724246 |
| Map | rs111724246 |
| PheGenI | rs111724246 |
| Biobank | rs111724246 |
| 1000 genomes | rs111724246 |
| hgdp | rs111724246 |
| ensembl | rs111724246 |
| geneview | rs111724246 |
| scholar | rs111724246 |
| rs111724246 | |
| pharmgkb | rs111724246 |
| gwascentral | rs111724246 |
| openSNP | rs111724246 |
| 23andMe | rs111724246 |
| SNPshot | rs111724246 |
| SNPdbe | rs111724246 |
| MSV3d | rs111724246 |
| GWAS Ctlg | rs111724246 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111724246(C;C) rs111724246(T;T) |
| Alt | rs111724246(C;C) rs111724246(T;T) |
| Reference | Rs111724246(G;G) |
| Significance | Pathogenic |
| Disease | Mowat-Wilson syndrome |
| Variation | info |
| Gene | ZEB2 |
| CLNDBN | Mowat-Wilson syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.145161630G>C |
| CLNSRC | |
| CLNACC | RCV000169702.1, |
