rs111033330
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033330(G;T) |
Make rs111033330(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 26461897 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs111033330 |
dbSNP (classic) | rs111033330 |
ClinGen | rs111033330 |
ebi | rs111033330 |
HLI | rs111033330 |
Exac | rs111033330 |
Gnomad | rs111033330 |
Varsome | rs111033330 |
LitVar | rs111033330 |
Map | rs111033330 |
PheGenI | rs111033330 |
Biobank | rs111033330 |
1000 genomes | rs111033330 |
hgdp | rs111033330 |
ensembl | rs111033330 |
geneview | rs111033330 |
scholar | rs111033330 |
rs111033330 | |
pharmgkb | rs111033330 |
gwascentral | rs111033330 |
openSNP | rs111033330 |
23andMe | rs111033330 |
SNPshot | rs111033330 |
SNPdbe | rs111033330 |
MSV3d | rs111033330 |
GWAS Ctlg | rs111033330 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033330(A;A) rs111033330(T;T) |
Alt | rs111033330(A;A) rs111033330(T;T) |
Reference | Rs111033330(G;G) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 1 |
HGVS | NC_000002.11:g.26684765C>A |
CLNSRC | ClinVar |
CLNACC | RCV000041570.3, |