rs766753922
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs766753922(-;-) |
Make rs766753922(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 80239362 |
Gene | OTOGL |
is a | snp |
is | mentioned by |
dbSNP | rs766753922 |
dbSNP (classic) | rs766753922 |
ClinGen | rs766753922 |
ebi | rs766753922 |
HLI | rs766753922 |
Exac | rs766753922 |
Gnomad | rs766753922 |
Varsome | rs766753922 |
LitVar | rs766753922 |
Map | rs766753922 |
PheGenI | rs766753922 |
Biobank | rs766753922 |
1000 genomes | rs766753922 |
hgdp | rs766753922 |
ensembl | rs766753922 |
geneview | rs766753922 |
scholar | rs766753922 |
rs766753922 | |
pharmgkb | rs766753922 |
gwascentral | rs766753922 |
openSNP | rs766753922 |
23andMe | rs766753922 |
SNPshot | rs766753922 |
SNPdbe | rs766753922 |
MSV3d | rs766753922 |
GWAS Ctlg | rs766753922 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766753922(-;-) |
Alt | rs766753922(-;-) |
Reference | Rs766753922(G;G) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | OTOGL |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000012.11:g.80633142delG |
CLNSRC | |
CLNACC | RCV000219678.1, |