rs397518439
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of an early-onset Parkinson's mutation |
| (T;T) | 9 | Early-onset (juvenile) Parkinson's disease likely |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 162727661 |
| Gene | PACRG, PARK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397518439 |
| dbSNP (classic) | rs397518439 |
| ClinGen | rs397518439 |
| ebi | rs397518439 |
| HLI | rs397518439 |
| Exac | rs397518439 |
| Gnomad | rs397518439 |
| Varsome | rs397518439 |
| LitVar | rs397518439 |
| Map | rs397518439 |
| PheGenI | rs397518439 |
| Biobank | rs397518439 |
| 1000 genomes | rs397518439 |
| hgdp | rs397518439 |
| ensembl | rs397518439 |
| geneview | rs397518439 |
| scholar | rs397518439 |
| rs397518439 | |
| pharmgkb | rs397518439 |
| gwascentral | rs397518439 |
| openSNP | rs397518439 |
| 23andMe | rs397518439 |
| SNPshot | rs397518439 |
| SNPdbe | rs397518439 |
| MSV3d | rs397518439 |
| GWAS Ctlg | rs397518439 |
| Max Magnitude | 9 |
c.7+1G>T
| ClinVar | |
|---|---|
| Risk | Rs397518439(T;T) |
| Alt | Rs397518439(T;T) |
| Reference | Rs397518439(G;G) |
| Significance | Pathogenic |
| Disease | Parkinson disease 2 |
| Variation | info |
| Gene | PACRG PARK2 |
| CLNDBN | Parkinson disease 2 |
| Reversed | 1 |
| HGVS | NC_000006.11:g.163148693C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007469.4, |
