rs111033305
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111033305(A;A) |
| Make rs111033305(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107690200 |
| Gene | SLC26A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033305 |
| dbSNP (classic) | rs111033305 |
| ClinGen | rs111033305 |
| ebi | rs111033305 |
| HLI | rs111033305 |
| Exac | rs111033305 |
| Gnomad | rs111033305 |
| Varsome | rs111033305 |
| LitVar | rs111033305 |
| Map | rs111033305 |
| PheGenI | rs111033305 |
| Biobank | rs111033305 |
| 1000 genomes | rs111033305 |
| hgdp | rs111033305 |
| ensembl | rs111033305 |
| geneview | rs111033305 |
| scholar | rs111033305 |
| rs111033305 | |
| pharmgkb | rs111033305 |
| gwascentral | rs111033305 |
| openSNP | rs111033305 |
| 23andMe | rs111033305 |
| SNPshot | rs111033305 |
| SNPdbe | rs111033305 |
| MSV3d | rs111033305 |
| GWAS Ctlg | rs111033305 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033305(A;A) rs111033305(C;C) |
| Alt | rs111033305(A;A) rs111033305(C;C) |
| Reference | Rs111033305(G;G) |
| Significance | Pathogenic |
| Disease | Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided |
| Variation | info |
| Gene | SLC26A4 |
| CLNDBN | Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107330645G>A; NC_000007.13:g.107330645G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000036428.3, RCV000169222.1, RCV000424441.1, RCV000036429.2, |
[PMID 1960865] [Angiotensin converting enzyme inhibitor].
[PMID 9618166] Two frequent missense mutations in Pendred syndrome.
[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.
[PMID 15355436] Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
[PMID 16053392] Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.
[PMID 17766716] High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.
[PMID 12676893
] Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
