rs751037529
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;G) | 3 | Carrier of an early-onset Parkinson's disease mutation |
| (G;G) | 9 | Early-onset (juvenile) Parkinson's disease likely |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 161785793 |
| Gene | PARK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs751037529 |
| dbSNP (classic) | rs751037529 |
| ClinGen | rs751037529 |
| ebi | rs751037529 |
| HLI | rs751037529 |
| Exac | rs751037529 |
| Gnomad | rs751037529 |
| Varsome | rs751037529 |
| LitVar | rs751037529 |
| Map | rs751037529 |
| PheGenI | rs751037529 |
| Biobank | rs751037529 |
| 1000 genomes | rs751037529 |
| hgdp | rs751037529 |
| ensembl | rs751037529 |
| geneview | rs751037529 |
| scholar | rs751037529 |
| rs751037529 | |
| pharmgkb | rs751037529 |
| gwascentral | rs751037529 |
| openSNP | rs751037529 |
| 23andMe | rs751037529 |
| SNPshot | rs751037529 |
| SNPdbe | rs751037529 |
| MSV3d | rs751037529 |
| GWAS Ctlg | rs751037529 |
| Max Magnitude | 9 |
c.850G>C (p.Gly284Arg)
23andMe calls this i5047029
| ClinVar | |
|---|---|
| Risk | Rs751037529(G;G) |
| Alt | Rs751037529(G;G) |
| Reference | Rs751037529(C;C) |
| Significance | Pathogenic |
| Disease | Parkinson disease 2 |
| Variation | info |
| Gene | PARK2 |
| CLNDBN | Parkinson disease 2 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.162206825C>G |
| CLNSRC | |
| CLNACC | RCV000460040.1, |
