rs13031859
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs13031859(A;A) |
Make rs13031859(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26519093 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs13031859 |
dbSNP (classic) | rs13031859 |
ClinGen | rs13031859 |
ebi | rs13031859 |
HLI | rs13031859 |
Exac | rs13031859 |
Gnomad | rs13031859 |
Varsome | rs13031859 |
LitVar | rs13031859 |
Map | rs13031859 |
PheGenI | rs13031859 |
Biobank | rs13031859 |
1000 genomes | rs13031859 |
hgdp | rs13031859 |
ensembl | rs13031859 |
geneview | rs13031859 |
scholar | rs13031859 |
rs13031859 | |
pharmgkb | rs13031859 |
gwascentral | rs13031859 |
openSNP | rs13031859 |
23andMe | rs13031859 |
SNPshot | rs13031859 |
SNPdbe | rs13031859 |
MSV3d | rs13031859 |
GWAS Ctlg | rs13031859 |
GMAF | 0.281 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs13031859(A;A) |
Alt | rs13031859(A;A) |
Reference | Rs13031859(G;G) |
Significance | Probable-non-pathogenic |
Disease | Deafness not specified Nonsyndromic Hearing Loss |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 not specified Nonsyndromic Hearing Loss, Recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.26741961G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000021048.1, RCV000041497.3, RCV000367748.1, |