rs368790049
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs368790049(A;A) |
Make rs368790049(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26460204 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs368790049 |
dbSNP (classic) | rs368790049 |
ClinGen | rs368790049 |
ebi | rs368790049 |
HLI | rs368790049 |
Exac | rs368790049 |
Gnomad | rs368790049 |
Varsome | rs368790049 |
LitVar | rs368790049 |
Map | rs368790049 |
PheGenI | rs368790049 |
Biobank | rs368790049 |
1000 genomes | rs368790049 |
hgdp | rs368790049 |
ensembl | rs368790049 |
geneview | rs368790049 |
scholar | rs368790049 |
rs368790049 | |
pharmgkb | rs368790049 |
gwascentral | rs368790049 |
openSNP | rs368790049 |
23andMe | rs368790049 |
SNPshot | rs368790049 |
SNPdbe | rs368790049 |
MSV3d | rs368790049 |
GWAS Ctlg | rs368790049 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368790049(A;A) |
Alt | rs368790049(A;A) |
Reference | Rs368790049(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 |
Reversed | 0 |
HGVS | NC_000002.11:g.26683072G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056053.1, |