rs948962
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs948962(G;T) |
Make rs948962(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77208433 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs948962 |
dbSNP (classic) | rs948962 |
ClinGen | rs948962 |
ebi | rs948962 |
HLI | rs948962 |
Exac | rs948962 |
Gnomad | rs948962 |
Varsome | rs948962 |
LitVar | rs948962 |
Map | rs948962 |
PheGenI | rs948962 |
Biobank | rs948962 |
1000 genomes | rs948962 |
hgdp | rs948962 |
ensembl | rs948962 |
geneview | rs948962 |
scholar | rs948962 |
rs948962 | |
pharmgkb | rs948962 |
gwascentral | rs948962 |
openSNP | rs948962 |
23andMe | rs948962 |
SNPshot | rs948962 |
SNPdbe | rs948962 |
MSV3d | rs948962 |
GWAS Ctlg | rs948962 |
GMAF | 0.4775 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
[PMID 18776599] Susceptibility genes for gentamicin-induced vestibular dysfunction.
ClinVar | |
---|---|
Risk | rs948962(C;C) rs948962(T;T) |
Alt | rs948962(C;C) rs948962(T;T) |
Reference | Rs948962(G;G) |
Significance | Non-pathogenic |
Disease | not specified Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome |
Variation | info |
Gene | MYO7A |
CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive Nonsyndromic Hearing Loss, Dominant Retinitis pigmentosa-deafness syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.76919478C>A; NC_000011.9:g.76919478C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000036209.4, RCV000274378.1, RCV000309473.1, RCV000366542.1, RCV000270823.1, |