rs111033302
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs111033302(C;C) |
| Make rs111033302(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107661643 |
| Gene | SLC26A4, SLC26A4-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033302 |
| dbSNP (classic) | rs111033302 |
| ClinGen | rs111033302 |
| ebi | rs111033302 |
| HLI | rs111033302 |
| Exac | rs111033302 |
| Gnomad | rs111033302 |
| Varsome | rs111033302 |
| LitVar | rs111033302 |
| Map | rs111033302 |
| PheGenI | rs111033302 |
| Biobank | rs111033302 |
| 1000 genomes | rs111033302 |
| hgdp | rs111033302 |
| ensembl | rs111033302 |
| geneview | rs111033302 |
| scholar | rs111033302 |
| rs111033302 | |
| pharmgkb | rs111033302 |
| gwascentral | rs111033302 |
| openSNP | rs111033302 |
| 23andMe | rs111033302 |
| SNPshot | rs111033302 |
| SNPdbe | rs111033302 |
| MSV3d | rs111033302 |
| GWAS Ctlg | rs111033302 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033302(C;C) rs111033302(G;G) |
| Alt | rs111033302(C;C) rs111033302(G;G) |
| Reference | Rs111033302(T;T) |
| Significance | Pathogenic |
| Disease | Enlarged vestibular aqueduct syndrome Pendred's syndrome |
| Variation | info |
| Gene | SLC26A4-AS1 SLC26A4 |
| CLNDBN | Enlarged vestibular aqueduct syndrome Pendred's syndrome |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107302088T>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000036489.2, |
[PMID 14679580] Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
[PMID 15099345] Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
[PMID 16950989] Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
[PMID 19204907
] Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
[PMID 19509082] Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
