rs794727347
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794727347(-;-) |
Make rs794727347(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 90658228 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727347 |
dbSNP (classic) | rs794727347 |
ClinGen | rs794727347 |
ebi | rs794727347 |
HLI | rs794727347 |
Exac | rs794727347 |
Gnomad | rs794727347 |
Varsome | rs794727347 |
LitVar | rs794727347 |
Map | rs794727347 |
PheGenI | rs794727347 |
Biobank | rs794727347 |
1000 genomes | rs794727347 |
hgdp | rs794727347 |
ensembl | rs794727347 |
geneview | rs794727347 |
scholar | rs794727347 |
rs794727347 | |
pharmgkb | rs794727347 |
gwascentral | rs794727347 |
openSNP | rs794727347 |
23andMe | rs794727347 |
SNPshot | rs794727347 |
SNPdbe | rs794727347 |
MSV3d | rs794727347 |
GWAS Ctlg | rs794727347 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727347(-;-) |
Alt | rs794727347(-;-) |
Reference | Rs794727347(A;A) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | GPR98 ADGRV1 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.89954045delA |
CLNSRC | |
CLNACC | RCV000176234.1, |