rs746523071
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs746523071(-;T) |
| Make rs746523071(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 150928132 |
| Gene | CLRN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs746523071 |
| dbSNP (classic) | rs746523071 |
| ClinGen | rs746523071 |
| ebi | rs746523071 |
| HLI | rs746523071 |
| Exac | rs746523071 |
| Gnomad | rs746523071 |
| Varsome | rs746523071 |
| LitVar | rs746523071 |
| Map | rs746523071 |
| PheGenI | rs746523071 |
| Biobank | rs746523071 |
| 1000 genomes | rs746523071 |
| hgdp | rs746523071 |
| ensembl | rs746523071 |
| geneview | rs746523071 |
| scholar | rs746523071 |
| rs746523071 | |
| pharmgkb | rs746523071 |
| gwascentral | rs746523071 |
| openSNP | rs746523071 |
| 23andMe | rs746523071 |
| SNPshot | rs746523071 |
| SNPdbe | rs746523071 |
| MSV3d | rs746523071 |
| GWAS Ctlg | rs746523071 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs746523071(T;T) |
| Alt | rs746523071(T;T) |
| Reference | Rs746523071(-;-) |
| Significance | Probable-Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | CLRN1 |
| CLNDBN | Usher syndrome, type 3A |
| Reversed | 0 |
| HGVS | NC_000003.11:g.150645920dupT |
| CLNSRC | |
| CLNACC | RCV000169229.1, |
