rs727503352
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503352(-;-) |
Make rs727503352(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 26462171 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs727503352 |
dbSNP (classic) | rs727503352 |
ClinGen | rs727503352 |
ebi | rs727503352 |
HLI | rs727503352 |
Exac | rs727503352 |
Gnomad | rs727503352 |
Varsome | rs727503352 |
LitVar | rs727503352 |
Map | rs727503352 |
PheGenI | rs727503352 |
Biobank | rs727503352 |
1000 genomes | rs727503352 |
hgdp | rs727503352 |
ensembl | rs727503352 |
geneview | rs727503352 |
scholar | rs727503352 |
rs727503352 | |
pharmgkb | rs727503352 |
gwascentral | rs727503352 |
openSNP | rs727503352 |
23andMe | rs727503352 |
SNPshot | rs727503352 |
SNPdbe | rs727503352 |
MSV3d | rs727503352 |
GWAS Ctlg | rs727503352 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503352(-;-) |
Alt | rs727503352(-;-) |
Reference | Rs727503352(C;C) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 1 |
HGVS | NC_000002.11:g.26685039delG |
CLNSRC | |
CLNACC | RCV000151592.1, |