rs145415848
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs145415848(C;T) |
| Make rs145415848(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 78111171 |
| Gene | CIB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145415848 |
| dbSNP (classic) | rs145415848 |
| ClinGen | rs145415848 |
| ebi | rs145415848 |
| HLI | rs145415848 |
| Exac | rs145415848 |
| Gnomad | rs145415848 |
| Varsome | rs145415848 |
| LitVar | rs145415848 |
| Map | rs145415848 |
| PheGenI | rs145415848 |
| Biobank | rs145415848 |
| 1000 genomes | rs145415848 |
| hgdp | rs145415848 |
| ensembl | rs145415848 |
| geneview | rs145415848 |
| scholar | rs145415848 |
| rs145415848 | |
| pharmgkb | rs145415848 |
| gwascentral | rs145415848 |
| openSNP | rs145415848 |
| 23andMe | rs145415848 |
| SNPshot | rs145415848 |
| SNPdbe | rs145415848 |
| MSV3d | rs145415848 |
| GWAS Ctlg | rs145415848 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs145415848(G;G) rs145415848(T;T) |
| Alt | rs145415848(G;G) rs145415848(T;T) |
| Reference | Rs145415848(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome Usher syndrome not specified |
| Variation | info |
| Gene | CIB2 |
| CLNDBN | Usher syndrome, type 1J Usher syndrome, type 1 not specified |
| Reversed | 0 |
| HGVS | NC_000015.9:g.78403513C>G; NC_000015.9:g.78403513C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000032890.3, RCV000223233.1, RCV000243546.1, |
