rs886044647
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 12 |
Position | 80302673 |
Gene | OTOGL |
is a | snp |
is | mentioned by |
dbSNP | rs886044647 |
dbSNP (classic) | rs886044647 |
ClinGen | rs886044647 |
ebi | rs886044647 |
HLI | rs886044647 |
Exac | rs886044647 |
Gnomad | rs886044647 |
Varsome | rs886044647 |
LitVar | rs886044647 |
Map | rs886044647 |
PheGenI | rs886044647 |
Biobank | rs886044647 |
1000 genomes | rs886044647 |
hgdp | rs886044647 |
ensembl | rs886044647 |
geneview | rs886044647 |
scholar | rs886044647 |
rs886044647 | |
pharmgkb | rs886044647 |
gwascentral | rs886044647 |
openSNP | rs886044647 |
23andMe | rs886044647 |
SNPshot | rs886044647 |
SNPdbe | rs886044647 |
MSV3d | rs886044647 |
GWAS Ctlg | rs886044647 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044647(T;T) |
Alt | rs886044647(T;T) |
Reference | Rs886044647(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOGL |
CLNDBN | Deafness, autosomal recessive 84b |
Reversed | 0 |
HGVS | NC_000012.11:g.80696453C>T |
CLNSRC | |
CLNACC | RCV000280830.1, |