rs111033454
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033454(A;A) |
Make rs111033454(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107683281 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs111033454 |
dbSNP (classic) | rs111033454 |
ClinGen | rs111033454 |
ebi | rs111033454 |
HLI | rs111033454 |
Exac | rs111033454 |
Gnomad | rs111033454 |
Varsome | rs111033454 |
LitVar | rs111033454 |
Map | rs111033454 |
PheGenI | rs111033454 |
Biobank | rs111033454 |
1000 genomes | rs111033454 |
hgdp | rs111033454 |
ensembl | rs111033454 |
geneview | rs111033454 |
scholar | rs111033454 |
rs111033454 | |
pharmgkb | rs111033454 |
gwascentral | rs111033454 |
openSNP | rs111033454 |
23andMe | rs111033454 |
SNPshot | rs111033454 |
SNPdbe | rs111033454 |
MSV3d | rs111033454 |
GWAS Ctlg | rs111033454 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033454(A;A) |
Alt | rs111033454(A;A) |
Reference | Rs111033454(G;G) |
Significance | Probable-Pathogenic |
Disease | Enlarged vestibular aqueduct syndrome Pendred's syndrome not specified |
Variation | info |
Gene | SLC26A4 |
CLNDBN | Enlarged vestibular aqueduct syndrome Pendred's syndrome not specified |
Reversed | 0 |
HGVS | NC_000007.13:g.107323726G>A |
CLNSRC | ClinVar |
CLNACC | RCV000036508.3, RCV000396295.1, |