rs111033256
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111033256(A;A) |
Make rs111033256(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107675060 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs111033256 |
dbSNP (classic) | rs111033256 |
ClinGen | rs111033256 |
ebi | rs111033256 |
HLI | rs111033256 |
Exac | rs111033256 |
Gnomad | rs111033256 |
Varsome | rs111033256 |
LitVar | rs111033256 |
Map | rs111033256 |
PheGenI | rs111033256 |
Biobank | rs111033256 |
1000 genomes | rs111033256 |
hgdp | rs111033256 |
ensembl | rs111033256 |
geneview | rs111033256 |
scholar | rs111033256 |
rs111033256 | |
pharmgkb | rs111033256 |
gwascentral | rs111033256 |
openSNP | rs111033256 |
23andMe | rs111033256 |
SNPshot | rs111033256 |
SNPdbe | rs111033256 |
MSV3d | rs111033256 |
GWAS Ctlg | rs111033256 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033256(A;A) |
Alt | rs111033256(A;A) |
Reference | Rs111033256(T;T) |
Significance | Other |
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.107315505T>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000036506.2, RCV000169244.3, |
[PMID 12676893] Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
[PMID 12974744] Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
[PMID 16460646] Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.