rs143939430
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs143939430(A;A) |
Make rs143939430(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26465020 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs143939430 |
dbSNP (classic) | rs143939430 |
ClinGen | rs143939430 |
ebi | rs143939430 |
HLI | rs143939430 |
Exac | rs143939430 |
Gnomad | rs143939430 |
Varsome | rs143939430 |
LitVar | rs143939430 |
Map | rs143939430 |
PheGenI | rs143939430 |
Biobank | rs143939430 |
1000 genomes | rs143939430 |
hgdp | rs143939430 |
ensembl | rs143939430 |
geneview | rs143939430 |
scholar | rs143939430 |
rs143939430 | |
pharmgkb | rs143939430 |
gwascentral | rs143939430 |
openSNP | rs143939430 |
23andMe | rs143939430 |
SNPshot | rs143939430 |
SNPdbe | rs143939430 |
MSV3d | rs143939430 |
GWAS Ctlg | rs143939430 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143939430(A;A) rs143939430(T;T) |
Alt | rs143939430(A;A) rs143939430(T;T) |
Reference | Rs143939430(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 |
Reversed | 0 |
HGVS | NC_000002.11:g.26687888G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056044.1, |