rs1300341380
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | Carrier of a progressive myoclonic epilepsy-1B mutation |
| Make rs1300341380(T;T) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 12 |
| Position | 42466368 |
| Gene | PRICKLE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1300341380 |
| dbSNP (classic) | rs1300341380 |
| ClinGen | rs1300341380 |
| ebi | rs1300341380 |
| HLI | rs1300341380 |
| Exac | rs1300341380 |
| Gnomad | rs1300341380 |
| Varsome | rs1300341380 |
| LitVar | rs1300341380 |
| Map | rs1300341380 |
| PheGenI | rs1300341380 |
| Biobank | rs1300341380 |
| 1000 genomes | rs1300341380 |
| hgdp | rs1300341380 |
| ensembl | rs1300341380 |
| geneview | rs1300341380 |
| scholar | rs1300341380 |
| rs1300341380 | |
| pharmgkb | rs1300341380 |
| gwascentral | rs1300341380 |
| openSNP | rs1300341380 |
| 23andMe | rs1300341380 |
| SNPshot | rs1300341380 |
| SNPdbe | rs1300341380 |
| MSV3d | rs1300341380 |
| GWAS Ctlg | rs1300341380 |
| Max Magnitude | 3 |
aka Asp201Asn; [PMID 30564977]
