rs397517418
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397517418(-;TGG) |
Make rs397517418(TGG;TGG) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 90728738 |
Gene | ADGRV1, LOC105379077 |
is a | snp |
is | mentioned by |
dbSNP | rs397517418 |
dbSNP (classic) | rs397517418 |
ClinGen | rs397517418 |
ebi | rs397517418 |
HLI | rs397517418 |
Exac | rs397517418 |
Gnomad | rs397517418 |
Varsome | rs397517418 |
LitVar | rs397517418 |
Map | rs397517418 |
PheGenI | rs397517418 |
Biobank | rs397517418 |
1000 genomes | rs397517418 |
hgdp | rs397517418 |
ensembl | rs397517418 |
geneview | rs397517418 |
scholar | rs397517418 |
rs397517418 | |
pharmgkb | rs397517418 |
gwascentral | rs397517418 |
openSNP | rs397517418 |
23andMe | rs397517418 |
SNPshot | rs397517418 |
SNPdbe | rs397517418 |
MSV3d | rs397517418 |
GWAS Ctlg | rs397517418 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517418(GTG;GTG) |
Alt | rs397517418(GTG;GTG) |
Reference | Rs397517418(-;-) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | ADGRV1 GPR98 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.90024553_90024555dupTGG |
CLNSRC | ClinVar |
CLNACC | RCV000039501.2, |