rs483353050
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs483353050(-;-) |
Make rs483353050(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 26484507 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs483353050 |
dbSNP (classic) | rs483353050 |
ClinGen | rs483353050 |
ebi | rs483353050 |
HLI | rs483353050 |
Exac | rs483353050 |
Gnomad | rs483353050 |
Varsome | rs483353050 |
LitVar | rs483353050 |
Map | rs483353050 |
PheGenI | rs483353050 |
Biobank | rs483353050 |
1000 genomes | rs483353050 |
hgdp | rs483353050 |
ensembl | rs483353050 |
geneview | rs483353050 |
scholar | rs483353050 |
rs483353050 | |
pharmgkb | rs483353050 |
gwascentral | rs483353050 |
openSNP | rs483353050 |
23andMe | rs483353050 |
SNPshot | rs483353050 |
SNPdbe | rs483353050 |
MSV3d | rs483353050 |
GWAS Ctlg | rs483353050 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483353050(-;-) |
Alt | rs483353050(-;-) |
Reference | Rs483353050(A;A) |
Significance | Probable-Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 |
Reversed | 1 |
HGVS | NC_000002.11:g.26707375delT |
CLNSRC | ClinVar |
CLNACC | RCV000119820.1, |