rs111033306
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTG;CTG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TGC;TGC) | 0 | common in clinvar |
Make rs111033306(-;-) |
Make rs111033306(-;TGC) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107694423 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs111033306 |
dbSNP (classic) | rs111033306 |
ClinGen | rs111033306 |
ebi | rs111033306 |
HLI | rs111033306 |
Exac | rs111033306 |
Gnomad | rs111033306 |
Varsome | rs111033306 |
LitVar | rs111033306 |
Map | rs111033306 |
PheGenI | rs111033306 |
Biobank | rs111033306 |
1000 genomes | rs111033306 |
hgdp | rs111033306 |
ensembl | rs111033306 |
geneview | rs111033306 |
scholar | rs111033306 |
rs111033306 | |
pharmgkb | rs111033306 |
gwascentral | rs111033306 |
openSNP | rs111033306 |
23andMe | rs111033306 |
SNPshot | rs111033306 |
SNPdbe | rs111033306 |
MSV3d | rs111033306 |
GWAS Ctlg | rs111033306 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033306(-;-) Rs111033306(CTG;CTG) |
Alt | rs111033306(-;-) Rs111033306(CTG;CTG) |
Reference | Rs111033306(TGC;TGC) |
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.107334868_107334870delTGC |
CLNSRC | ClinVar |
CLNACC | RCV000036434.3, RCV000169051.1, |
[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.
[PMID 14679580] Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.