rs397514588
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514588(C;T) |
Make rs397514588(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 80229341 |
Gene | OTOGL |
is a | snp |
is | mentioned by |
dbSNP | rs397514588 |
dbSNP (classic) | rs397514588 |
ClinGen | rs397514588 |
ebi | rs397514588 |
HLI | rs397514588 |
Exac | rs397514588 |
Gnomad | rs397514588 |
Varsome | rs397514588 |
LitVar | rs397514588 |
Map | rs397514588 |
PheGenI | rs397514588 |
Biobank | rs397514588 |
1000 genomes | rs397514588 |
hgdp | rs397514588 |
ensembl | rs397514588 |
geneview | rs397514588 |
scholar | rs397514588 |
rs397514588 | |
pharmgkb | rs397514588 |
gwascentral | rs397514588 |
openSNP | rs397514588 |
23andMe | rs397514588 |
SNPshot | rs397514588 |
SNPdbe | rs397514588 |
MSV3d | rs397514588 |
GWAS Ctlg | rs397514588 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514588(T;T) |
Alt | rs397514588(T;T) |
Reference | Rs397514588(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOGL |
CLNDBN | Deafness, autosomal recessive 84b |
Reversed | 0 |
HGVS | NC_000012.11:g.80623121C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033001.3, |