rs111033199
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | carrier of Pendred Syndrome allele |
| (T;T) | 5 | Pendred Syndrome |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107672245 |
| Gene | SLC26A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033199 |
| dbSNP (classic) | rs111033199 |
| ClinGen | rs111033199 |
| ebi | rs111033199 |
| HLI | rs111033199 |
| Exac | rs111033199 |
| Gnomad | rs111033199 |
| Varsome | rs111033199 |
| LitVar | rs111033199 |
| Map | rs111033199 |
| PheGenI | rs111033199 |
| Biobank | rs111033199 |
| 1000 genomes | rs111033199 |
| hgdp | rs111033199 |
| ensembl | rs111033199 |
| geneview | rs111033199 |
| scholar | rs111033199 |
| rs111033199 | |
| pharmgkb | rs111033199 |
| gwascentral | rs111033199 |
| openSNP | rs111033199 |
| 23andMe | rs111033199 |
| SNPshot | rs111033199 |
| SNPdbe | rs111033199 |
| MSV3d | rs111033199 |
| GWAS Ctlg | rs111033199 |
| Max Magnitude | 5 |
rs111033199, also known as V138F, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.
| ClinVar | |
|---|---|
| Risk | rs111033199(A;A) Rs111033199(T;T) |
| Alt | rs111033199(A;A) Rs111033199(T;T) |
| Reference | Rs111033199(G;G) |
| Significance | Pathogenic |
| Disease | Pendred's syndrome Enlarged vestibular aqueduct syndrome SLC26A4-Related Disorders not provided |
| Variation | info |
| Gene | SLC26A4 |
| CLNDBN | Pendred's syndrome Enlarged vestibular aqueduct syndrome SLC26A4-Related Disorders not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107312690G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005106.5, RCV000036493.3, RCV000272658.1, RCV000413949.1, |
[PMID 1278890] Little evidence to suggest end to physician shortage.
[PMID 9618166] Two frequent missense mutations in Pendred syndrome.
[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.
[PMID 11317356] Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
[PMID 11375792] Clinical and molecular analysis of three Mexican families with Pendred's syndrome.
[PMID 15689455
] SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
