rs200147906
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200147906(C;T) |
Make rs200147906(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 26465671 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs200147906 |
dbSNP (classic) | rs200147906 |
ClinGen | rs200147906 |
ebi | rs200147906 |
HLI | rs200147906 |
Exac | rs200147906 |
Gnomad | rs200147906 |
Varsome | rs200147906 |
LitVar | rs200147906 |
Map | rs200147906 |
PheGenI | rs200147906 |
Biobank | rs200147906 |
1000 genomes | rs200147906 |
hgdp | rs200147906 |
ensembl | rs200147906 |
geneview | rs200147906 |
scholar | rs200147906 |
rs200147906 | |
pharmgkb | rs200147906 |
gwascentral | rs200147906 |
openSNP | rs200147906 |
23andMe | rs200147906 |
SNPshot | rs200147906 |
SNPdbe | rs200147906 |
MSV3d | rs200147906 |
GWAS Ctlg | rs200147906 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200147906(G;G) rs200147906(T;T) |
Alt | rs200147906(G;G) rs200147906(T;T) |
Reference | Rs200147906(C;C) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000002.11:g.26688539C>T |
CLNSRC | |
CLNACC | RCV000151594.1, |