rs267607081
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs267607081(A;C) |
| Make rs267607081(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 37978043 |
| Gene | POLR2F, SOX10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607081 |
| dbSNP (classic) | rs267607081 |
| ClinGen | rs267607081 |
| ebi | rs267607081 |
| HLI | rs267607081 |
| Exac | rs267607081 |
| Gnomad | rs267607081 |
| Varsome | rs267607081 |
| LitVar | rs267607081 |
| Map | rs267607081 |
| PheGenI | rs267607081 |
| Biobank | rs267607081 |
| 1000 genomes | rs267607081 |
| hgdp | rs267607081 |
| ensembl | rs267607081 |
| geneview | rs267607081 |
| scholar | rs267607081 |
| rs267607081 | |
| pharmgkb | rs267607081 |
| gwascentral | rs267607081 |
| openSNP | rs267607081 |
| 23andMe | rs267607081 |
| SNPshot | rs267607081 |
| SNPdbe | rs267607081 |
| MSV3d | rs267607081 |
| GWAS Ctlg | rs267607081 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267607081(C;C) |
| Alt | rs267607081(C;C) |
| Reference | Rs267607081(A;A) |
| Significance | Pathogenic |
| Disease | Waardenburg syndrome type 2E |
| Variation | info |
| Gene | SOX10 POLR2F |
| CLNDBN | Waardenburg syndrome type 2E, with neurologic involvement |
| Reversed | 1 |
| HGVS | NC_000022.10:g.38374050T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007835.3, |
