rs397515592
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397515592(A;A) |
Make rs397515592(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26477506 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs397515592 |
dbSNP (classic) | rs397515592 |
ClinGen | rs397515592 |
ebi | rs397515592 |
HLI | rs397515592 |
Exac | rs397515592 |
Gnomad | rs397515592 |
Varsome | rs397515592 |
LitVar | rs397515592 |
Map | rs397515592 |
PheGenI | rs397515592 |
Biobank | rs397515592 |
1000 genomes | rs397515592 |
hgdp | rs397515592 |
ensembl | rs397515592 |
geneview | rs397515592 |
scholar | rs397515592 |
rs397515592 | |
pharmgkb | rs397515592 |
gwascentral | rs397515592 |
openSNP | rs397515592 |
23andMe | rs397515592 |
SNPshot | rs397515592 |
SNPdbe | rs397515592 |
MSV3d | rs397515592 |
GWAS Ctlg | rs397515592 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515592(A;A) |
Alt | rs397515592(A;A) |
Reference | Rs397515592(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 |
Reversed | 1 |
HGVS | NC_000002.11:g.26700374G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056028.1, |