rs111033316
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs111033316(A;G) |
Make rs111033316(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107696036 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs111033316 |
dbSNP (old) | rs111033316 |
ClinGen | rs111033316 |
ebi | rs111033316 |
HLI | rs111033316 |
Exac | rs111033316 |
Gnomad | rs111033316 |
Varsome | rs111033316 |
Map | rs111033316 |
PheGenI | rs111033316 |
Biobank | rs111033316 |
1000 genomes | rs111033316 |
hgdp | rs111033316 |
ensembl | rs111033316 |
gopubmed | rs111033316 |
geneview | rs111033316 |
scholar | rs111033316 |
rs111033316 | |
pharmgkb | rs111033316 |
gwascentral | rs111033316 |
openSNP | rs111033316 |
23andMe | rs111033316 |
23andMe all | rs111033316 |
SNPshot | rs111033316 |
SNPdbe | rs111033316 |
MSV3d | rs111033316 |
GWAS Ctlg | rs111033316 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033316(G;G) |
Alt | rs111033316(G;G) |
Reference | Rs111033316(A;A) |
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.107336481A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000036445.2, RCV000320959.1, |
[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.
[PMID 19204907] Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?