rs397515596
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCCCGCAGCCTCTTTGCCG;GCCCGCAGCCTCTTTGCCG) | 0 | common in clinvar |
Make rs397515596(CTCCGAGCGCA;CTCCGAGCGCA) |
Make rs397515596(CTCCGAGCGCA;GCCCGCAGCCTCTTTGCCG) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26475982 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs397515596 |
dbSNP (classic) | rs397515596 |
ClinGen | rs397515596 |
ebi | rs397515596 |
HLI | rs397515596 |
Exac | rs397515596 |
Gnomad | rs397515596 |
Varsome | rs397515596 |
LitVar | rs397515596 |
Map | rs397515596 |
PheGenI | rs397515596 |
Biobank | rs397515596 |
1000 genomes | rs397515596 |
hgdp | rs397515596 |
ensembl | rs397515596 |
geneview | rs397515596 |
scholar | rs397515596 |
rs397515596 | |
pharmgkb | rs397515596 |
gwascentral | rs397515596 |
openSNP | rs397515596 |
23andMe | rs397515596 |
SNPshot | rs397515596 |
SNPdbe | rs397515596 |
MSV3d | rs397515596 |
GWAS Ctlg | rs397515596 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515596(CTCCGAGCGCA;CTCCGAGCGCA) |
Alt | rs397515596(CTCCGAGCGCA;CTCCGAGCGCA) |
Reference | Rs397515596(GCCCGCAGCCTCTTTGCCG;GCCCGCAGCCTCTTTGCCG) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 |
Reversed | 1 |
HGVS | NC_000002.11:g.26698850_26698868del19insTGCGCTCGGAG |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056033.1, |