rs794727584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794727584(-;-) |
Make rs794727584(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 90703713 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727584 |
dbSNP (classic) | rs794727584 |
ClinGen | rs794727584 |
ebi | rs794727584 |
HLI | rs794727584 |
Exac | rs794727584 |
Gnomad | rs794727584 |
Varsome | rs794727584 |
LitVar | rs794727584 |
Map | rs794727584 |
PheGenI | rs794727584 |
Biobank | rs794727584 |
1000 genomes | rs794727584 |
hgdp | rs794727584 |
ensembl | rs794727584 |
geneview | rs794727584 |
scholar | rs794727584 |
rs794727584 | |
pharmgkb | rs794727584 |
gwascentral | rs794727584 |
openSNP | rs794727584 |
23andMe | rs794727584 |
SNPshot | rs794727584 |
SNPdbe | rs794727584 |
MSV3d | rs794727584 |
GWAS Ctlg | rs794727584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727584(-;-) |
Alt | rs794727584(-;-) |
Reference | Rs794727584(A;A) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | GPR98 ADGRV1 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.89999530delA |
CLNSRC | |
CLNACC | RCV000177853.1, |