rs186810296
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs186810296(C;T) |
Make rs186810296(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 26470592 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs186810296 |
dbSNP (classic) | rs186810296 |
ClinGen | rs186810296 |
ebi | rs186810296 |
HLI | rs186810296 |
Exac | rs186810296 |
Gnomad | rs186810296 |
Varsome | rs186810296 |
LitVar | rs186810296 |
Map | rs186810296 |
PheGenI | rs186810296 |
Biobank | rs186810296 |
1000 genomes | rs186810296 |
hgdp | rs186810296 |
ensembl | rs186810296 |
geneview | rs186810296 |
scholar | rs186810296 |
rs186810296 | |
pharmgkb | rs186810296 |
gwascentral | rs186810296 |
openSNP | rs186810296 |
23andMe | rs186810296 |
SNPshot | rs186810296 |
SNPdbe | rs186810296 |
MSV3d | rs186810296 |
GWAS Ctlg | rs186810296 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs186810296(T;T) |
Alt | rs186810296(T;T) |
Reference | Rs186810296(C;C) |
Significance | Pathogenic |
Disease | not specified Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | not specified Deafness, autosomal recessive 9 |
Reversed | 0 |
HGVS | NC_000002.11:g.26693460C>T |
CLNSRC | ClinVar |
CLNACC | RCV000041538.3, RCV000490336.1, |