rs5030732
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs5030732(A;A) |
| Make rs5030732(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 41257616 |
| Gene | UCHL1, UCHL1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5030732 |
| dbSNP (classic) | rs5030732 |
| ClinGen | rs5030732 |
| ebi | rs5030732 |
| HLI | rs5030732 |
| Exac | rs5030732 |
| Gnomad | rs5030732 |
| Varsome | rs5030732 |
| LitVar | rs5030732 |
| Map | rs5030732 |
| PheGenI | rs5030732 |
| Biobank | rs5030732 |
| 1000 genomes | rs5030732 |
| hgdp | rs5030732 |
| ensembl | rs5030732 |
| geneview | rs5030732 |
| scholar | rs5030732 |
| rs5030732 | |
| pharmgkb | rs5030732 |
| gwascentral | rs5030732 |
| openSNP | rs5030732 |
| 23andMe | rs5030732 |
| SNPshot | rs5030732 |
| SNPdbe | rs5030732 |
| MSV3d | rs5030732 |
| GWAS Ctlg | rs5030732 |
| GMAF | 0.242 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs5030732(A;A) |
| Alt | rs5030732(A;A) |
| Reference | Rs5030732(C;C) |
| Significance | Non-pathogenic |
| Disease | Parkinson disease 5 Parkinson Disease |
| Variation | info |
| Gene | UCHL1-AS1 UCHL1 |
| CLNDBN | Parkinson disease 5 Parkinson Disease, Dominant |
| Reversed | 0 |
| HGVS | NC_000004.11:g.41259633C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013092.3, RCV000397411.1, |
[PMID 20302855] Ubiquitin specific proteases USP24 and USP40 and ubiquitin thiolesterase UCHL1 polymorphisms have synergic effect on the risk of Parkinson's disease among Taiwanese.
