rs1060499786
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1060499786(-;-) |
Make rs1060499786(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 21697863 |
Gene | OTOA |
is a | snp |
is | mentioned by |
dbSNP | rs1060499786 |
dbSNP (classic) | rs1060499786 |
ClinGen | rs1060499786 |
ebi | rs1060499786 |
HLI | rs1060499786 |
Exac | rs1060499786 |
Gnomad | rs1060499786 |
Varsome | rs1060499786 |
LitVar | rs1060499786 |
Map | rs1060499786 |
PheGenI | rs1060499786 |
Biobank | rs1060499786 |
1000 genomes | rs1060499786 |
hgdp | rs1060499786 |
ensembl | rs1060499786 |
geneview | rs1060499786 |
scholar | rs1060499786 |
rs1060499786 | |
pharmgkb | rs1060499786 |
gwascentral | rs1060499786 |
openSNP | rs1060499786 |
23andMe | rs1060499786 |
SNPshot | rs1060499786 |
SNPdbe | rs1060499786 |
MSV3d | rs1060499786 |
GWAS Ctlg | rs1060499786 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499786(-;-) |
Alt | rs1060499786(-;-) |
Reference | Rs1060499786(T;T) |
Significance | Probable-Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOA |
CLNDBN | Deafness, autosomal recessive 22 |
Reversed | 0 |
HGVS | NC_000016.9:g.21709184delT |
CLNSRC | |
CLNACC | RCV000454262.1, |