rs137853967
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs137853967(G;G) |
| Make rs137853967(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 16986864 |
| Gene | ATP13A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853967 |
| dbSNP (classic) | rs137853967 |
| ClinGen | rs137853967 |
| ebi | rs137853967 |
| HLI | rs137853967 |
| Exac | rs137853967 |
| Gnomad | rs137853967 |
| Varsome | rs137853967 |
| LitVar | rs137853967 |
| Map | rs137853967 |
| PheGenI | rs137853967 |
| Biobank | rs137853967 |
| 1000 genomes | rs137853967 |
| hgdp | rs137853967 |
| ensembl | rs137853967 |
| geneview | rs137853967 |
| scholar | rs137853967 |
| rs137853967 | |
| pharmgkb | rs137853967 |
| gwascentral | rs137853967 |
| openSNP | rs137853967 |
| 23andMe | rs137853967 |
| SNPshot | rs137853967 |
| SNPdbe | rs137853967 |
| MSV3d | rs137853967 |
| GWAS Ctlg | rs137853967 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137853967(G;G) |
| Alt | rs137853967(G;G) |
| Reference | Rs137853967(T;T) |
| Significance | Pathogenic |
| Disease | Parkinson disease 9 |
| Variation | info |
| Gene | ATP13A2 |
| CLNDBN | Parkinson disease 9 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.17313359A>C |
| CLNSRC | |
| CLNACC | |
[PMID 21542062] Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
