rs148690740
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148690740(A;A) |
Make rs148690740(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 21722979 |
Gene | OTOA |
is a | snp |
is | mentioned by |
dbSNP | rs148690740 |
dbSNP (classic) | rs148690740 |
ClinGen | rs148690740 |
ebi | rs148690740 |
HLI | rs148690740 |
Exac | rs148690740 |
Gnomad | rs148690740 |
Varsome | rs148690740 |
LitVar | rs148690740 |
Map | rs148690740 |
PheGenI | rs148690740 |
Biobank | rs148690740 |
1000 genomes | rs148690740 |
hgdp | rs148690740 |
ensembl | rs148690740 |
geneview | rs148690740 |
scholar | rs148690740 |
rs148690740 | |
pharmgkb | rs148690740 |
gwascentral | rs148690740 |
openSNP | rs148690740 |
23andMe | rs148690740 |
SNPshot | rs148690740 |
SNPdbe | rs148690740 |
MSV3d | rs148690740 |
GWAS Ctlg | rs148690740 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148690740(A;A) |
Alt | rs148690740(A;A) |
Reference | Rs148690740(G;G) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | OTOA |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000016.9:g.21734300G>A |
CLNSRC | |
CLNACC | RCV000151587.1, |