rs397514607
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514607(C;T) |
Make rs397514607(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17612638 |
Gene | OTOG |
is a | snp |
is | mentioned by |
dbSNP | rs397514607 |
dbSNP (classic) | rs397514607 |
ClinGen | rs397514607 |
ebi | rs397514607 |
HLI | rs397514607 |
Exac | rs397514607 |
Gnomad | rs397514607 |
Varsome | rs397514607 |
LitVar | rs397514607 |
Map | rs397514607 |
PheGenI | rs397514607 |
Biobank | rs397514607 |
1000 genomes | rs397514607 |
hgdp | rs397514607 |
ensembl | rs397514607 |
geneview | rs397514607 |
scholar | rs397514607 |
rs397514607 | |
pharmgkb | rs397514607 |
gwascentral | rs397514607 |
openSNP | rs397514607 |
23andMe | rs397514607 |
SNPshot | rs397514607 |
SNPdbe | rs397514607 |
MSV3d | rs397514607 |
GWAS Ctlg | rs397514607 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514607(T;T) |
Alt | rs397514607(T;T) |
Reference | Rs397514607(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOG |
CLNDBN | Deafness, autosomal recessive 18b |
Reversed | 0 |
HGVS | NC_000011.9:g.17634185C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033039.2, |