rs181805996
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs181805996(A;T) |
Make rs181805996(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26484485 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs181805996 |
dbSNP (classic) | rs181805996 |
ClinGen | rs181805996 |
ebi | rs181805996 |
HLI | rs181805996 |
Exac | rs181805996 |
Gnomad | rs181805996 |
Varsome | rs181805996 |
LitVar | rs181805996 |
Map | rs181805996 |
PheGenI | rs181805996 |
Biobank | rs181805996 |
1000 genomes | rs181805996 |
hgdp | rs181805996 |
ensembl | rs181805996 |
geneview | rs181805996 |
scholar | rs181805996 |
rs181805996 | |
pharmgkb | rs181805996 |
gwascentral | rs181805996 |
openSNP | rs181805996 |
23andMe | rs181805996 |
SNPshot | rs181805996 |
SNPdbe | rs181805996 |
MSV3d | rs181805996 |
GWAS Ctlg | rs181805996 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs181805996(T;T) |
Alt | rs181805996(T;T) |
Reference | Rs181805996(A;A) |
Significance | Pathogenic |
Disease | not specified Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | not specified Deafness, autosomal recessive 9 |
Reversed | 0 |
HGVS | NC_000002.11:g.26707353A>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000041456.3, RCV000056013.1, |