rs111033314
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs111033314(A;G) |
Make rs111033314(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107689203 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs111033314 |
dbSNP (classic) | rs111033314 |
ClinGen | rs111033314 |
ebi | rs111033314 |
HLI | rs111033314 |
Exac | rs111033314 |
Gnomad | rs111033314 |
Varsome | rs111033314 |
LitVar | rs111033314 |
Map | rs111033314 |
PheGenI | rs111033314 |
Biobank | rs111033314 |
1000 genomes | rs111033314 |
hgdp | rs111033314 |
ensembl | rs111033314 |
geneview | rs111033314 |
scholar | rs111033314 |
rs111033314 | |
pharmgkb | rs111033314 |
gwascentral | rs111033314 |
openSNP | rs111033314 |
23andMe | rs111033314 |
SNPshot | rs111033314 |
SNPdbe | rs111033314 |
MSV3d | rs111033314 |
GWAS Ctlg | rs111033314 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033314(G;G) rs111033314(T;T) |
Alt | rs111033314(G;G) rs111033314(T;T) |
Reference | Rs111033314(A;A) |
Significance | Pathogenic |
Disease | Enlarged vestibular aqueduct syndrome Pendred's syndrome |
Variation | info |
Gene | SLC26A4 |
CLNDBN | Enlarged vestibular aqueduct syndrome Pendred's syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.107329648A>G |
CLNSRC | ClinVar |
CLNACC | RCV000036424.2, |
[PMID 15679828] Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.