rs756677845
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 8.9 | Parkinson's disease, type 6, early-onset |
| (-;G) | 3 | Carrier of an early-onset Parkinson's mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 20638074 |
| Gene | PINK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs756677845 |
| dbSNP (classic) | rs756677845 |
| ClinGen | rs756677845 |
| ebi | rs756677845 |
| HLI | rs756677845 |
| Exac | rs756677845 |
| Gnomad | rs756677845 |
| Varsome | rs756677845 |
| LitVar | rs756677845 |
| Map | rs756677845 |
| PheGenI | rs756677845 |
| Biobank | rs756677845 |
| 1000 genomes | rs756677845 |
| hgdp | rs756677845 |
| ensembl | rs756677845 |
| geneview | rs756677845 |
| scholar | rs756677845 |
| rs756677845 | |
| pharmgkb | rs756677845 |
| gwascentral | rs756677845 |
| openSNP | rs756677845 |
| 23andMe | rs756677845 |
| SNPshot | rs756677845 |
| SNPdbe | rs756677845 |
| MSV3d | rs756677845 |
| GWAS Ctlg | rs756677845 |
| Max Magnitude | 8.9 |
c.620delG (p.Arg207Glnfs)
| ClinVar | |
|---|---|
| Risk | Rs756677845(-;-) |
| Alt | Rs756677845(-;-) |
| Reference | Rs756677845(G;G) |
| Significance | Pathogenic |
| Disease | Parkinson disease 6 |
| Variation | info |
| Gene | PINK1 |
| CLNDBN | Parkinson disease 6, autosomal recessive early-onset |
| Reversed | 0 |
| HGVS | NC_000001.10:g.20964567delG |
| CLNSRC | |
| CLNACC | RCV000169671.1, |
