rs199766465
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199766465(C;G) |
Make rs199766465(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26463969 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs199766465 |
dbSNP (classic) | rs199766465 |
ClinGen | rs199766465 |
ebi | rs199766465 |
HLI | rs199766465 |
Exac | rs199766465 |
Gnomad | rs199766465 |
Varsome | rs199766465 |
LitVar | rs199766465 |
Map | rs199766465 |
PheGenI | rs199766465 |
Biobank | rs199766465 |
1000 genomes | rs199766465 |
hgdp | rs199766465 |
ensembl | rs199766465 |
geneview | rs199766465 |
scholar | rs199766465 |
rs199766465 | |
pharmgkb | rs199766465 |
gwascentral | rs199766465 |
openSNP | rs199766465 |
23andMe | rs199766465 |
SNPshot | rs199766465 |
SNPdbe | rs199766465 |
MSV3d | rs199766465 |
GWAS Ctlg | rs199766465 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199766465(G;G) |
Alt | rs199766465(G;G) |
Reference | Rs199766465(C;C) |
Significance | Pathogenic |
Disease | Deafness Nonsyndromic hearing loss and deafness not provided |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 Nonsyndromic hearing loss and deafness not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.26686837C>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056047.4, RCV000195955.1, RCV000211734.1, RCV000413616.1, |