rs759174628
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs759174628(C;T) |
Make rs759174628(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 80339228 |
Gene | OTOGL |
is a | snp |
is | mentioned by |
dbSNP | rs759174628 |
dbSNP (classic) | rs759174628 |
ClinGen | rs759174628 |
ebi | rs759174628 |
HLI | rs759174628 |
Exac | rs759174628 |
Gnomad | rs759174628 |
Varsome | rs759174628 |
LitVar | rs759174628 |
Map | rs759174628 |
PheGenI | rs759174628 |
Biobank | rs759174628 |
1000 genomes | rs759174628 |
hgdp | rs759174628 |
ensembl | rs759174628 |
geneview | rs759174628 |
scholar | rs759174628 |
rs759174628 | |
pharmgkb | rs759174628 |
gwascentral | rs759174628 |
openSNP | rs759174628 |
23andMe | rs759174628 |
SNPshot | rs759174628 |
SNPdbe | rs759174628 |
MSV3d | rs759174628 |
GWAS Ctlg | rs759174628 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759174628(T;T) |
Alt | rs759174628(T;T) |
Reference | Rs759174628(C;C) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | OTOGL |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000012.11:g.80733008C>T |
CLNSRC | |
CLNACC | RCV000214404.1, |