rs199848801
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199848801(A;A) |
Make rs199848801(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26473999 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs199848801 |
dbSNP (classic) | rs199848801 |
ClinGen | rs199848801 |
ebi | rs199848801 |
HLI | rs199848801 |
Exac | rs199848801 |
Gnomad | rs199848801 |
Varsome | rs199848801 |
LitVar | rs199848801 |
Map | rs199848801 |
PheGenI | rs199848801 |
Biobank | rs199848801 |
1000 genomes | rs199848801 |
hgdp | rs199848801 |
ensembl | rs199848801 |
geneview | rs199848801 |
scholar | rs199848801 |
rs199848801 | |
pharmgkb | rs199848801 |
gwascentral | rs199848801 |
openSNP | rs199848801 |
23andMe | rs199848801 |
SNPshot | rs199848801 |
SNPdbe | rs199848801 |
MSV3d | rs199848801 |
GWAS Ctlg | rs199848801 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199848801(A;A) |
Alt | rs199848801(A;A) |
Reference | Rs199848801(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 |
Reversed | 0 |
HGVS | NC_000002.11:g.26696867G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056037.1, |