rs794727579
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727579(C;T) |
Make rs794727579(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 215998943 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs794727579 |
dbSNP (classic) | rs794727579 |
ClinGen | rs794727579 |
ebi | rs794727579 |
HLI | rs794727579 |
Exac | rs794727579 |
Gnomad | rs794727579 |
Varsome | rs794727579 |
LitVar | rs794727579 |
Map | rs794727579 |
PheGenI | rs794727579 |
Biobank | rs794727579 |
1000 genomes | rs794727579 |
hgdp | rs794727579 |
ensembl | rs794727579 |
geneview | rs794727579 |
scholar | rs794727579 |
rs794727579 | |
pharmgkb | rs794727579 |
gwascentral | rs794727579 |
openSNP | rs794727579 |
23andMe | rs794727579 |
SNPshot | rs794727579 |
SNPdbe | rs794727579 |
MSV3d | rs794727579 |
GWAS Ctlg | rs794727579 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727579(T;T) |
Alt | rs794727579(T;T) |
Reference | Rs794727579(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 1 |
HGVS | NC_000001.10:g.216172285G>A |
CLNSRC | |
CLNACC | RCV000177821.1, |