rs369793306
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs369793306(C;T) |
Make rs369793306(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 90776485 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs369793306 |
dbSNP (classic) | rs369793306 |
ClinGen | rs369793306 |
ebi | rs369793306 |
HLI | rs369793306 |
Exac | rs369793306 |
Gnomad | rs369793306 |
Varsome | rs369793306 |
LitVar | rs369793306 |
Map | rs369793306 |
PheGenI | rs369793306 |
Biobank | rs369793306 |
1000 genomes | rs369793306 |
hgdp | rs369793306 |
ensembl | rs369793306 |
geneview | rs369793306 |
scholar | rs369793306 |
rs369793306 | |
pharmgkb | rs369793306 |
gwascentral | rs369793306 |
openSNP | rs369793306 |
23andMe | rs369793306 |
SNPshot | rs369793306 |
SNPdbe | rs369793306 |
MSV3d | rs369793306 |
GWAS Ctlg | rs369793306 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs369793306(G;G) rs369793306(T;T) |
Alt | rs369793306(G;G) rs369793306(T;T) |
Reference | Rs369793306(C;C) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | ADGRV1 GPR98 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.90072302C>T |
CLNSRC | |
CLNACC | RCV000416421.1, |