rs770247378
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (ATT;ATT) | 0 | common in clinvar |
| Make rs770247378(-;-) |
| Make rs770247378(-;ATT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 34785183 |
| Gene | GJB3, LOC105378642 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770247378 |
| dbSNP (classic) | rs770247378 |
| ClinGen | rs770247378 |
| ebi | rs770247378 |
| HLI | rs770247378 |
| Exac | rs770247378 |
| Gnomad | rs770247378 |
| Varsome | rs770247378 |
| LitVar | rs770247378 |
| Map | rs770247378 |
| PheGenI | rs770247378 |
| Biobank | rs770247378 |
| 1000 genomes | rs770247378 |
| hgdp | rs770247378 |
| ensembl | rs770247378 |
| geneview | rs770247378 |
| scholar | rs770247378 |
| rs770247378 | |
| pharmgkb | rs770247378 |
| gwascentral | rs770247378 |
| openSNP | rs770247378 |
| 23andMe | rs770247378 |
| SNPshot | rs770247378 |
| SNPdbe | rs770247378 |
| MSV3d | rs770247378 |
| GWAS Ctlg | rs770247378 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs770247378(-;-) |
| Alt | rs770247378(-;-) |
| Reference | Rs770247378(ATT;ATT) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | GJB3 |
| CLNDBN | Deafness, autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000001.10:g.35250784_35250786delATT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006860.4, |
