rs878853229
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;A) | 3 | Carrier of a DFNB7/11 deafness mutation |
| Make rs878853229(A;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 9 |
| Position | 72648663 |
| Gene | TMC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs878853229 |
| dbSNP (classic) | rs878853229 |
| ClinGen | rs878853229 |
| ebi | rs878853229 |
| HLI | rs878853229 |
| Exac | rs878853229 |
| Gnomad | rs878853229 |
| Varsome | rs878853229 |
| LitVar | rs878853229 |
| Map | rs878853229 |
| PheGenI | rs878853229 |
| Biobank | rs878853229 |
| 1000 genomes | rs878853229 |
| hgdp | rs878853229 |
| ensembl | rs878853229 |
| geneview | rs878853229 |
| scholar | rs878853229 |
| rs878853229 | |
| pharmgkb | rs878853229 |
| gwascentral | rs878853229 |
| openSNP | rs878853229 |
| 23andMe | rs878853229 |
| SNPshot | rs878853229 |
| SNPdbe | rs878853229 |
| MSV3d | rs878853229 |
| GWAS Ctlg | rs878853229 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs878853229(A;A) |
| Alt | rs878853229(A;A) |
| Reference | Rs878853229(-;-) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | TMC1 |
| CLNDBN | Deafness, autosomal recessive 7 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.75263579dupA |
| CLNSRC | |
| CLNACC | RCV000225071.1, |
