rs397517258
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397517258(-;-) |
Make rs397517258(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 114478747 |
Gene | WHRN |
is a | snp |
is | mentioned by |
dbSNP | rs397517258 |
dbSNP (classic) | rs397517258 |
ClinGen | rs397517258 |
ebi | rs397517258 |
HLI | rs397517258 |
Exac | rs397517258 |
Gnomad | rs397517258 |
Varsome | rs397517258 |
LitVar | rs397517258 |
Map | rs397517258 |
PheGenI | rs397517258 |
Biobank | rs397517258 |
1000 genomes | rs397517258 |
hgdp | rs397517258 |
ensembl | rs397517258 |
geneview | rs397517258 |
scholar | rs397517258 |
rs397517258 | |
pharmgkb | rs397517258 |
gwascentral | rs397517258 |
openSNP | rs397517258 |
23andMe | rs397517258 |
SNPshot | rs397517258 |
SNPdbe | rs397517258 |
MSV3d | rs397517258 |
GWAS Ctlg | rs397517258 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517258(-;-) |
Alt | rs397517258(-;-) |
Reference | Rs397517258(G;G) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | WHRN DFNB31 |
CLNDBN | Usher syndrome, type 2D |
Reversed | 1 |
HGVS | NC_000009.11:g.117241027delC |
CLNSRC | ClinVar |
CLNACC | RCV000038897.2, |