rs147541734
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Carrier for a recessive mutation for deafness |
| (T;T) | 0 | common/normal |
| Make rs147541734(C;C) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 12 |
| Position | 80506078 |
| Gene | PTPRQ |
| is a | snp |
| is | mentioned by |
| dbSNP | rs147541734 |
| dbSNP (classic) | rs147541734 |
| ClinGen | rs147541734 |
| ebi | rs147541734 |
| HLI | rs147541734 |
| Exac | rs147541734 |
| Gnomad | rs147541734 |
| Varsome | rs147541734 |
| LitVar | rs147541734 |
| Map | rs147541734 |
| PheGenI | rs147541734 |
| Biobank | rs147541734 |
| 1000 genomes | rs147541734 |
| hgdp | rs147541734 |
| ensembl | rs147541734 |
| geneview | rs147541734 |
| scholar | rs147541734 |
| rs147541734 | |
| pharmgkb | rs147541734 |
| gwascentral | rs147541734 |
| openSNP | rs147541734 |
| 23andMe | rs147541734 |
| SNPshot | rs147541734 |
| SNPdbe | rs147541734 |
| MSV3d | rs147541734 |
| GWAS Ctlg | rs147541734 |
| Max Magnitude | 3 |
The rare allele for this PTPRQ gene variant is reported to be causative for a recessive form of deafness; see PTPRQ for details and sources.
