rs201329629
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201329629(A;A) |
Make rs201329629(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26476014 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs201329629 |
dbSNP (classic) | rs201329629 |
ClinGen | rs201329629 |
ebi | rs201329629 |
HLI | rs201329629 |
Exac | rs201329629 |
Gnomad | rs201329629 |
Varsome | rs201329629 |
LitVar | rs201329629 |
Map | rs201329629 |
PheGenI | rs201329629 |
Biobank | rs201329629 |
1000 genomes | rs201329629 |
hgdp | rs201329629 |
ensembl | rs201329629 |
geneview | rs201329629 |
scholar | rs201329629 |
rs201329629 | |
pharmgkb | rs201329629 |
gwascentral | rs201329629 |
openSNP | rs201329629 |
23andMe | rs201329629 |
SNPshot | rs201329629 |
SNPdbe | rs201329629 |
MSV3d | rs201329629 |
GWAS Ctlg | rs201329629 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201329629(A;A) rs201329629(C;C) rs201329629(T;T) |
Alt | rs201329629(A;A) rs201329629(C;C) rs201329629(T;T) |
Reference | Rs201329629(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 |
Reversed | 0 |
HGVS | NC_000002.11:g.26698882G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056032.1, |