rs397515611
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397515611(C;C) |
Make rs397515611(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26501754 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs397515611 |
dbSNP (classic) | rs397515611 |
ClinGen | rs397515611 |
ebi | rs397515611 |
HLI | rs397515611 |
Exac | rs397515611 |
Gnomad | rs397515611 |
Varsome | rs397515611 |
LitVar | rs397515611 |
Map | rs397515611 |
PheGenI | rs397515611 |
Biobank | rs397515611 |
1000 genomes | rs397515611 |
hgdp | rs397515611 |
ensembl | rs397515611 |
geneview | rs397515611 |
scholar | rs397515611 |
rs397515611 | |
pharmgkb | rs397515611 |
gwascentral | rs397515611 |
openSNP | rs397515611 |
23andMe | rs397515611 |
SNPshot | rs397515611 |
SNPdbe | rs397515611 |
MSV3d | rs397515611 |
GWAS Ctlg | rs397515611 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515611(C;C) |
Alt | rs397515611(C;C) |
Reference | Rs397515611(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 |
Reversed | 1 |
HGVS | NC_000002.11:g.26724622C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056055.1, |