rs115352681
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs115352681(C;T) |
| Make rs115352681(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 197421010 |
| Gene | CRB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs115352681 |
| dbSNP (classic) | rs115352681 |
| ClinGen | rs115352681 |
| ebi | rs115352681 |
| HLI | rs115352681 |
| Exac | rs115352681 |
| Gnomad | rs115352681 |
| Varsome | rs115352681 |
| LitVar | rs115352681 |
| Map | rs115352681 |
| PheGenI | rs115352681 |
| Biobank | rs115352681 |
| 1000 genomes | rs115352681 |
| hgdp | rs115352681 |
| ensembl | rs115352681 |
| geneview | rs115352681 |
| scholar | rs115352681 |
| rs115352681 | |
| pharmgkb | rs115352681 |
| gwascentral | rs115352681 |
| openSNP | rs115352681 |
| 23andMe | rs115352681 |
| SNPshot | rs115352681 |
| SNPdbe | rs115352681 |
| MSV3d | rs115352681 |
| GWAS Ctlg | rs115352681 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs115352681(A;A) rs115352681(T;T) |
| Alt | rs115352681(A;A) rs115352681(T;T) |
| Reference | Rs115352681(C;C) |
| Significance | Pathogenic |
| Disease | Leber congenital amaurosis 8 |
| Variation | info |
| Gene | CRB1 |
| CLNDBN | Leber congenital amaurosis 8 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.197390140C>A |
| CLNSRC | |
| CLNACC | RCV000322587.1, |
