rs111033313
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs111033313(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107683453 |
| Gene | SLC26A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033313 |
| dbSNP (classic) | rs111033313 |
| ClinGen | rs111033313 |
| ebi | rs111033313 |
| HLI | rs111033313 |
| Exac | rs111033313 |
| Gnomad | rs111033313 |
| Varsome | rs111033313 |
| LitVar | rs111033313 |
| Map | rs111033313 |
| PheGenI | rs111033313 |
| Biobank | rs111033313 |
| 1000 genomes | rs111033313 |
| hgdp | rs111033313 |
| ensembl | rs111033313 |
| geneview | rs111033313 |
| scholar | rs111033313 |
| rs111033313 | |
| pharmgkb | rs111033313 |
| gwascentral | rs111033313 |
| openSNP | rs111033313 |
| 23andMe | rs111033313 |
| SNPshot | rs111033313 |
| SNPdbe | rs111033313 |
| MSV3d | rs111033313 |
| GWAS Ctlg | rs111033313 |
| Max Magnitude | 0 |
aka c.919-2A>G, IVS7-2A>G
| ClinVar | |
|---|---|
| Risk | rs111033313(G;G) |
| Alt | rs111033313(G;G) |
| Reference | Rs111033313(A;A) |
| Significance | Other |
| 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.107323898A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005112.6, RCV000036513.2, RCV000169120.1, RCV000414330.1, |
[PMID 14679] Selective chemical modification of Escherichia coli elongation factor G: butanedione modification of an arginine essential for nucleotide binding.
[PMID 10874637
] Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
[PMID 11502831] Two Chinese families with Pendred's syndrome--radiological imaging of the ear and molecular analysis of the pendrin gene.
[PMID 12676893] Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
[PMID 14508505] Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
[PMID 15679828] Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.
