rs762033589
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common/normal |
| (-;TC) | 3 | Carrier of a Parkinson's mutation, type 9, early-onset |
| (TC;TC) | 8 | Parkinson's mutation, type 9, early-onset |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 16997112 |
| Gene | ATP13A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs762033589 |
| dbSNP (classic) | rs762033589 |
| ClinGen | rs762033589 |
| ebi | rs762033589 |
| HLI | rs762033589 |
| Exac | rs762033589 |
| Gnomad | rs762033589 |
| Varsome | rs762033589 |
| LitVar | rs762033589 |
| Map | rs762033589 |
| PheGenI | rs762033589 |
| Biobank | rs762033589 |
| 1000 genomes | rs762033589 |
| hgdp | rs762033589 |
| ensembl | rs762033589 |
| geneview | rs762033589 |
| scholar | rs762033589 |
| rs762033589 | |
| pharmgkb | rs762033589 |
| gwascentral | rs762033589 |
| openSNP | rs762033589 |
| 23andMe | rs762033589 |
| SNPshot | rs762033589 |
| SNPdbe | rs762033589 |
| MSV3d | rs762033589 |
| GWAS Ctlg | rs762033589 |
| Max Magnitude | 8 |
c.1101_1102dupGA (p.Thr368Argfs)
| ClinVar | |
|---|---|
| Risk | Rs762033589(TC;TC) |
| Alt | Rs762033589(TC;TC) |
| Reference | Rs762033589(-;-) |
| Significance | Pathogenic |
| Disease | Parkinson disease 9 |
| Variation | info |
| Gene | ATP13A2 |
| CLNDBN | Parkinson disease 9 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.17323608_17323609dupTC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023818.4, |
