rs199606180
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199606180(C;T) |
Make rs199606180(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77206120 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs199606180 |
dbSNP (classic) | rs199606180 |
ClinGen | rs199606180 |
ebi | rs199606180 |
HLI | rs199606180 |
Exac | rs199606180 |
Gnomad | rs199606180 |
Varsome | rs199606180 |
LitVar | rs199606180 |
Map | rs199606180 |
PheGenI | rs199606180 |
Biobank | rs199606180 |
1000 genomes | rs199606180 |
hgdp | rs199606180 |
ensembl | rs199606180 |
geneview | rs199606180 |
scholar | rs199606180 |
rs199606180 | |
pharmgkb | rs199606180 |
gwascentral | rs199606180 |
openSNP | rs199606180 |
23andMe | rs199606180 |
SNPshot | rs199606180 |
SNPdbe | rs199606180 |
MSV3d | rs199606180 |
GWAS Ctlg | rs199606180 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199606180(T;T) |
Alt | rs199606180(T;T) |
Reference | Rs199606180(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.76917165C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000036200.3, |