rs1060499805
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060499805(C;T) |
Make rs1060499805(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 26468468 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs1060499805 |
dbSNP (classic) | rs1060499805 |
ClinGen | rs1060499805 |
ebi | rs1060499805 |
HLI | rs1060499805 |
Exac | rs1060499805 |
Gnomad | rs1060499805 |
Varsome | rs1060499805 |
LitVar | rs1060499805 |
Map | rs1060499805 |
PheGenI | rs1060499805 |
Biobank | rs1060499805 |
1000 genomes | rs1060499805 |
hgdp | rs1060499805 |
ensembl | rs1060499805 |
geneview | rs1060499805 |
scholar | rs1060499805 |
rs1060499805 | |
pharmgkb | rs1060499805 |
gwascentral | rs1060499805 |
openSNP | rs1060499805 |
23andMe | rs1060499805 |
SNPshot | rs1060499805 |
SNPdbe | rs1060499805 |
MSV3d | rs1060499805 |
GWAS Ctlg | rs1060499805 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499805(T;T) |
Alt | rs1060499805(T;T) |
Reference | Rs1060499805(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 |
Reversed | 1 |
HGVS | NC_000002.11:g.26691336G>A |
CLNSRC | |
CLNACC | RCV000454315.1, |