rs111033242
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033242(C;G) |
Make rs111033242(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 107675050 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs111033242 |
dbSNP (classic) | rs111033242 |
ClinGen | rs111033242 |
ebi | rs111033242 |
HLI | rs111033242 |
Exac | rs111033242 |
Gnomad | rs111033242 |
Varsome | rs111033242 |
LitVar | rs111033242 |
Map | rs111033242 |
PheGenI | rs111033242 |
Biobank | rs111033242 |
1000 genomes | rs111033242 |
hgdp | rs111033242 |
ensembl | rs111033242 |
geneview | rs111033242 |
scholar | rs111033242 |
rs111033242 | |
pharmgkb | rs111033242 |
gwascentral | rs111033242 |
openSNP | rs111033242 |
23andMe | rs111033242 |
SNPshot | rs111033242 |
SNPdbe | rs111033242 |
MSV3d | rs111033242 |
GWAS Ctlg | rs111033242 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033242(G;G) |
Alt | rs111033242(G;G) |
Reference | Rs111033242(C;C) |
Significance | Probable-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.107315495C>G |
CLNSRC | |
CLNACC | RCV000036504.3, RCV000411990.1, |