rs587776890
From SNPedia
| Orientation | plus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 8 | Parkinson's mutation, type 9, early-onset |
| (-;AA) | 3 | Carrier of a Parkinson's mutation, type 9, early-onset |
| (AA;AA) | 0 | common in clinvar |
| (TT;TT) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 16989747 |
| Gene | ATP13A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776890 |
| dbSNP (classic) | rs587776890 |
| ClinGen | rs587776890 |
| ebi | rs587776890 |
| HLI | rs587776890 |
| Exac | rs587776890 |
| Gnomad | rs587776890 |
| Varsome | rs587776890 |
| LitVar | rs587776890 |
| Map | rs587776890 |
| PheGenI | rs587776890 |
| Biobank | rs587776890 |
| 1000 genomes | rs587776890 |
| hgdp | rs587776890 |
| ensembl | rs587776890 |
| geneview | rs587776890 |
| scholar | rs587776890 |
| rs587776890 | |
| pharmgkb | rs587776890 |
| gwascentral | rs587776890 |
| openSNP | rs587776890 |
| 23andMe | rs587776890 |
| SNPshot | rs587776890 |
| SNPdbe | rs587776890 |
| MSV3d | rs587776890 |
| GWAS Ctlg | rs587776890 |
| Max Magnitude | 8 |
c.2552_2553delTT (p.Phe851Cysfs)
| ClinVar | |
|---|---|
| Risk | Rs587776890(AA;AA) Rs587776890(-;-) |
| Alt | Rs587776890(AA;AA) Rs587776890(-;-) |
| Reference | Rs587776890(TT;TT) |
| Significance | Pathogenic |
| Disease | Parkinson disease 9 |
| Variation | info |
| Gene | ATP13A2 |
| CLNDBN | Parkinson disease 9 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.17316242_17316243delAA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023819.6, |
