rs749798211
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 8 | Parkinson's mutation, type 9, early-onset |
| (-;GAAGGGGTCGGAC) | 3 | Carrier of a Parkinson's mutation, type 9, early-onset |
| (CAGGCTGGGGAAG;CAGGCTGGGGAAG) | 0 | common in clinvar |
| (GAAGGGGTCGGAC;GAAGGGGTCGGAC) | 0 | common/normal |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 17004818 |
| Gene | ATP13A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749798211 |
| dbSNP (classic) | rs749798211 |
| ClinGen | rs749798211 |
| ebi | rs749798211 |
| HLI | rs749798211 |
| Exac | rs749798211 |
| Gnomad | rs749798211 |
| Varsome | rs749798211 |
| LitVar | rs749798211 |
| Map | rs749798211 |
| PheGenI | rs749798211 |
| Biobank | rs749798211 |
| 1000 genomes | rs749798211 |
| hgdp | rs749798211 |
| ensembl | rs749798211 |
| geneview | rs749798211 |
| scholar | rs749798211 |
| rs749798211 | |
| pharmgkb | rs749798211 |
| gwascentral | rs749798211 |
| openSNP | rs749798211 |
| 23andMe | rs749798211 |
| SNPshot | rs749798211 |
| SNPdbe | rs749798211 |
| MSV3d | rs749798211 |
| GWAS Ctlg | rs749798211 |
| Max Magnitude | 8 |
c.348-9_351del
| ClinVar | |
|---|---|
| Risk | Rs749798211(-;-) |
| Alt | Rs749798211(-;-) |
| Reference | Rs749798211(CAGGCTGGGGAAG;CAGGCTGGGGAAG) |
| Significance | Pathogenic |
| Disease | Parkinson disease 9 |
| Variation | info |
| Gene | ATP13A2 |
| CLNDBN | Parkinson disease 9 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.17331313_17331325delCAGGCTGGGGAAG |
| CLNSRC | Baylor College of Medicine |
| CLNACC | RCV000191064.1, |
