rs281865415
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs281865415(C;T) |
| Make rs281865415(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 121166652 |
| Gene | TECTA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281865415 |
| dbSNP (classic) | rs281865415 |
| ClinGen | rs281865415 |
| ebi | rs281865415 |
| HLI | rs281865415 |
| Exac | rs281865415 |
| Gnomad | rs281865415 |
| Varsome | rs281865415 |
| LitVar | rs281865415 |
| Map | rs281865415 |
| PheGenI | rs281865415 |
| Biobank | rs281865415 |
| 1000 genomes | rs281865415 |
| hgdp | rs281865415 |
| ensembl | rs281865415 |
| geneview | rs281865415 |
| scholar | rs281865415 |
| rs281865415 | |
| pharmgkb | rs281865415 |
| gwascentral | rs281865415 |
| openSNP | rs281865415 |
| 23andMe | rs281865415 |
| SNPshot | rs281865415 |
| SNPdbe | rs281865415 |
| MSV3d | rs281865415 |
| GWAS Ctlg | rs281865415 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281865415(T;T) |
| Alt | rs281865415(T;T) |
| Reference | Rs281865415(C;C) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | TECTA |
| CLNDBN | Deafness, autosomal dominant 12 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.121037361C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007428.2, |
