rs557205452
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;ATC) | 3 | Carrier of a progressive myoclonic epilepsy-1B mutation |
| (ATC;ATC) | 0 | common/normal |
| Make rs557205452(-;-) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 12 |
| Position | 42460025 |
| Gene | PRICKLE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs557205452 |
| dbSNP (classic) | rs557205452 |
| ClinGen | rs557205452 |
| ebi | rs557205452 |
| HLI | rs557205452 |
| Exac | rs557205452 |
| Gnomad | rs557205452 |
| Varsome | rs557205452 |
| LitVar | rs557205452 |
| Map | rs557205452 |
| PheGenI | rs557205452 |
| Biobank | rs557205452 |
| 1000 genomes | rs557205452 |
| hgdp | rs557205452 |
| ensembl | rs557205452 |
| geneview | rs557205452 |
| scholar | rs557205452 |
| rs557205452 | |
| pharmgkb | rs557205452 |
| gwascentral | rs557205452 |
| openSNP | rs557205452 |
| 23andMe | rs557205452 |
| SNPshot | rs557205452 |
| SNPdbe | rs557205452 |
| MSV3d | rs557205452 |
| GWAS Ctlg | rs557205452 |
| Max Magnitude | 3 |
aka Asp760del [PMID 30564977]
