rs111033271
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111033271(A;A) |
| Make rs111033271(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 71793370 |
| Gene | CDH23 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033271 |
| dbSNP (classic) | rs111033271 |
| ClinGen | rs111033271 |
| ebi | rs111033271 |
| HLI | rs111033271 |
| Exac | rs111033271 |
| Gnomad | rs111033271 |
| Varsome | rs111033271 |
| LitVar | rs111033271 |
| Map | rs111033271 |
| PheGenI | rs111033271 |
| Biobank | rs111033271 |
| 1000 genomes | rs111033271 |
| hgdp | rs111033271 |
| ensembl | rs111033271 |
| geneview | rs111033271 |
| scholar | rs111033271 |
| rs111033271 | |
| pharmgkb | rs111033271 |
| gwascentral | rs111033271 |
| openSNP | rs111033271 |
| 23andMe | rs111033271 |
| SNPshot | rs111033271 |
| SNPdbe | rs111033271 |
| MSV3d | rs111033271 |
| GWAS Ctlg | rs111033271 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033271(A;A) |
| Alt | rs111033271(A;A) |
| Reference | Rs111033271(G;G) |
| Significance | Pathogenic |
| Disease | Deafness Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome |
| Variation | info |
| Gene | CDH23 |
| CLNDBN | Deafness, autosomal recessive 12 Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.73553127G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005204.5, RCV000296240.1, RCV000385938.1, |
[PMID 12075507
] CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
[PMID 12522556] Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
[PMID 15353998] Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).
