rs139747674
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs139747674(C;T) |
| Make rs139747674(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 64157305 |
| Gene | PRICKLE2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139747674 |
| dbSNP (classic) | rs139747674 |
| ClinGen | rs139747674 |
| ebi | rs139747674 |
| HLI | rs139747674 |
| Exac | rs139747674 |
| Gnomad | rs139747674 |
| Varsome | rs139747674 |
| LitVar | rs139747674 |
| Map | rs139747674 |
| PheGenI | rs139747674 |
| Biobank | rs139747674 |
| 1000 genomes | rs139747674 |
| hgdp | rs139747674 |
| ensembl | rs139747674 |
| geneview | rs139747674 |
| scholar | rs139747674 |
| rs139747674 | |
| pharmgkb | rs139747674 |
| gwascentral | rs139747674 |
| openSNP | rs139747674 |
| 23andMe | rs139747674 |
| SNPshot | rs139747674 |
| SNPdbe | rs139747674 |
| MSV3d | rs139747674 |
| GWAS Ctlg | rs139747674 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs139747674(T;T) |
| Alt | rs139747674(T;T) |
| Reference | Rs139747674(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Epilepsy not specified |
| Variation | info |
| Gene | PRICKLE2 |
| CLNDBN | Epilepsy, progressive myoclonic 5 not specified |
| Reversed | 0 |
| HGVS | NC_000003.11:g.64142981C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023709.4, RCV000326248.1, |
