rs758718347
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs758718347(C;T) |
Make rs758718347(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 90692782 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs758718347 |
dbSNP (classic) | rs758718347 |
ClinGen | rs758718347 |
ebi | rs758718347 |
HLI | rs758718347 |
Exac | rs758718347 |
Gnomad | rs758718347 |
Varsome | rs758718347 |
LitVar | rs758718347 |
Map | rs758718347 |
PheGenI | rs758718347 |
Biobank | rs758718347 |
1000 genomes | rs758718347 |
hgdp | rs758718347 |
ensembl | rs758718347 |
geneview | rs758718347 |
scholar | rs758718347 |
rs758718347 | |
pharmgkb | rs758718347 |
gwascentral | rs758718347 |
openSNP | rs758718347 |
23andMe | rs758718347 |
SNPshot | rs758718347 |
SNPdbe | rs758718347 |
MSV3d | rs758718347 |
GWAS Ctlg | rs758718347 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758718347(T;T) |
Alt | rs758718347(T;T) |
Reference | Rs758718347(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | GPR98 ADGRV1 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.89988599C>T |
CLNSRC | |
CLNACC | RCV000214702.1, |