rs111033254
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs111033254(C;C) |
| Make rs111033254(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107698085 |
| Gene | SLC26A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033254 |
| dbSNP (classic) | rs111033254 |
| ClinGen | rs111033254 |
| ebi | rs111033254 |
| HLI | rs111033254 |
| Exac | rs111033254 |
| Gnomad | rs111033254 |
| Varsome | rs111033254 |
| LitVar | rs111033254 |
| Map | rs111033254 |
| PheGenI | rs111033254 |
| Biobank | rs111033254 |
| 1000 genomes | rs111033254 |
| hgdp | rs111033254 |
| ensembl | rs111033254 |
| geneview | rs111033254 |
| scholar | rs111033254 |
| rs111033254 | |
| pharmgkb | rs111033254 |
| gwascentral | rs111033254 |
| openSNP | rs111033254 |
| 23andMe | rs111033254 |
| SNPshot | rs111033254 |
| SNPdbe | rs111033254 |
| MSV3d | rs111033254 |
| GWAS Ctlg | rs111033254 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033254(C;C) |
| Alt | rs111033254(C;C) |
| Reference | Rs111033254(T;T) |
| Significance | Other |
| Disease | Pendred's syndrome Enlarged vestibular aqueduct syndrome |
| Variation | info |
| Gene | SLC26A4 |
| CLNDBN | Pendred's syndrome Enlarged vestibular aqueduct syndrome |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107338530T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005107.7, RCV000036449.3, |
[PMID 165700] Getting it all together: coordinator for continuing care.
[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 12788906] Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
[PMID 15355436] Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
[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.
