rs200656442
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200656442(A;A) |
Make rs200656442(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 21715016 |
Gene | OTOA |
is a | snp |
is | mentioned by |
dbSNP | rs200656442 |
dbSNP (classic) | rs200656442 |
ClinGen | rs200656442 |
ebi | rs200656442 |
HLI | rs200656442 |
Exac | rs200656442 |
Gnomad | rs200656442 |
Varsome | rs200656442 |
LitVar | rs200656442 |
Map | rs200656442 |
PheGenI | rs200656442 |
Biobank | rs200656442 |
1000 genomes | rs200656442 |
hgdp | rs200656442 |
ensembl | rs200656442 |
geneview | rs200656442 |
scholar | rs200656442 |
rs200656442 | |
pharmgkb | rs200656442 |
gwascentral | rs200656442 |
openSNP | rs200656442 |
23andMe | rs200656442 |
SNPshot | rs200656442 |
SNPdbe | rs200656442 |
MSV3d | rs200656442 |
GWAS Ctlg | rs200656442 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200656442(A;A) |
Alt | rs200656442(A;A) |
Reference | Rs200656442(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOA |
CLNDBN | Deafness, autosomal recessive 22 |
Reversed | 0 |
HGVS | NC_000016.9:g.21726337G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087054.3, |