rs566433112
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs566433112(C;C) |
| Make rs566433112(C;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 74378112 |
| Gene | DCTN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs566433112 |
| dbSNP (classic) | rs566433112 |
| ClinGen | rs566433112 |
| ebi | rs566433112 |
| HLI | rs566433112 |
| Exac | rs566433112 |
| Gnomad | rs566433112 |
| Varsome | rs566433112 |
| LitVar | rs566433112 |
| Map | rs566433112 |
| PheGenI | rs566433112 |
| Biobank | rs566433112 |
| 1000 genomes | rs566433112 |
| hgdp | rs566433112 |
| ensembl | rs566433112 |
| geneview | rs566433112 |
| scholar | rs566433112 |
| rs566433112 | |
| pharmgkb | rs566433112 |
| gwascentral | rs566433112 |
| openSNP | rs566433112 |
| 23andMe | rs566433112 |
| SNPshot | rs566433112 |
| SNPdbe | rs566433112 |
| MSV3d | rs566433112 |
| GWAS Ctlg | rs566433112 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs566433112(C;C) |
| Alt | rs566433112(C;C) |
| Reference | Rs566433112(T;T) |
| Significance | Pathogenic |
| Disease | Perry syndrome |
| Variation | info |
| Gene | DCTN1 |
| CLNDBN | Perry syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.74605239T>C |
| CLNSRC | |
| CLNACC | RCV000250790.1, |
