rs370132645
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs370132645(A;C) |
Make rs370132645(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 26475912 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs370132645 |
dbSNP (classic) | rs370132645 |
ClinGen | rs370132645 |
ebi | rs370132645 |
HLI | rs370132645 |
Exac | rs370132645 |
Gnomad | rs370132645 |
Varsome | rs370132645 |
LitVar | rs370132645 |
Map | rs370132645 |
PheGenI | rs370132645 |
Biobank | rs370132645 |
1000 genomes | rs370132645 |
hgdp | rs370132645 |
ensembl | rs370132645 |
geneview | rs370132645 |
scholar | rs370132645 |
rs370132645 | |
pharmgkb | rs370132645 |
gwascentral | rs370132645 |
openSNP | rs370132645 |
23andMe | rs370132645 |
SNPshot | rs370132645 |
SNPdbe | rs370132645 |
MSV3d | rs370132645 |
GWAS Ctlg | rs370132645 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370132645(C;C) |
Alt | rs370132645(C;C) |
Reference | Rs370132645(A;A) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000002.11:g.26698780A>C |
CLNSRC | |
CLNACC | RCV000155257.1, |