Rs111033260
From SNPedia
| Orientation | minus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033260 |
| PheGenI | rs111033260 |
| nextbio | rs111033260 |
| hapmap | rs111033260 |
| 1000 genomes | rs111033260 |
| hgdp | rs111033260 |
| ensembl | rs111033260 |
| gopubmed | rs111033260 |
| geneview | rs111033260 |
| scholar | rs111033260 |
| rs111033260 | |
| pharmgkb | rs111033260 |
| gwascentral | rs111033260 |
| openSNP | rs111033260 |
| 23andMe | rs111033260 |
| 23andMe all | rs111033260 |
| SNP Nexus | |
| SNPshot | rs111033260 |
| SNPdbe | rs111033260 |
| MSV3d | rs111033260 |
| Gene | PCDH15 |
| Chromosome | 10 |
| Orientation | minus |
| Position | 56077174 |
| Reference | GRCh37 37.1/132 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111033260(C;T) |
| Make rs111033260(T;T) |
| ClinVar | |
|---|---|
| Risk | rs111033260(T;T) |
| Normal | rs111033260(C;C) |
| Significance | 5 |
| Disease | Usher syndrome |
| ClinVar | info |
| Gene | PCDH15 |
| CLNDBN | Usher syndrome, type 1F |
| Reversed | 1 |
| CLNHGVS | NC_000010.10:g.56077174G>A |
| CLNSRC | OMIM Allelic Variant |
[PMID 12711741] A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
[PMID 15028842] The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.
