rs397515597
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs397515597(-;-) |
Make rs397515597(-;AG) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26475929 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs397515597 |
dbSNP (classic) | rs397515597 |
ClinGen | rs397515597 |
ebi | rs397515597 |
HLI | rs397515597 |
Exac | rs397515597 |
Gnomad | rs397515597 |
Varsome | rs397515597 |
LitVar | rs397515597 |
Map | rs397515597 |
PheGenI | rs397515597 |
Biobank | rs397515597 |
1000 genomes | rs397515597 |
hgdp | rs397515597 |
ensembl | rs397515597 |
geneview | rs397515597 |
scholar | rs397515597 |
rs397515597 | |
pharmgkb | rs397515597 |
gwascentral | rs397515597 |
openSNP | rs397515597 |
23andMe | rs397515597 |
SNPshot | rs397515597 |
SNPdbe | rs397515597 |
MSV3d | rs397515597 |
GWAS Ctlg | rs397515597 |
Merged from | Rs727505157 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515597(-;-) |
Alt | rs397515597(-;-) |
Reference | Rs397515597(AG;AG) |
Significance | Other |
Disease | Deafness Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 Nonsyndromic hearing loss and deafness |
Reversed | 1 |
HGVS | NC_000002.11:g.26698795_26698796delCT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000156627.2, RCV000211839.1, |