rs28940285
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 8.9 | Parkinson's disease, type 6, early-onset |
| (C;T) | 3 | Carrier of an early-onset Parkinson's mutation |
| (T;T) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 20645640 |
| Gene | PINK1, PINK1-AS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940285 |
| dbSNP (classic) | rs28940285 |
| ClinGen | rs28940285 |
| ebi | rs28940285 |
| HLI | rs28940285 |
| Exac | rs28940285 |
| Gnomad | rs28940285 |
| Varsome | rs28940285 |
| LitVar | rs28940285 |
| Map | rs28940285 |
| PheGenI | rs28940285 |
| Biobank | rs28940285 |
| 1000 genomes | rs28940285 |
| hgdp | rs28940285 |
| ensembl | rs28940285 |
| geneview | rs28940285 |
| scholar | rs28940285 |
| rs28940285 | |
| pharmgkb | rs28940285 |
| gwascentral | rs28940285 |
| openSNP | rs28940285 |
| 23andMe | rs28940285 |
| SNPshot | rs28940285 |
| SNPdbe | rs28940285 |
| MSV3d | rs28940285 |
| GWAS Ctlg | rs28940285 |
| Max Magnitude | 8.9 |
c.1040T>C (p.Leu347Pro or L347P)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 6)
See also OMIM 608309.0005
23andMe calls this i3003043
| ClinVar | |
|---|---|
| Risk | Rs28940285(C;C) |
| Alt | Rs28940285(C;C) |
| Reference | Rs28940285(T;T) |
| Significance | Pathogenic |
| Disease | Parkinson disease 6 |
| Variation | info |
| Gene | PINK1-AS PINK1 |
| CLNDBN | Parkinson disease 6, autosomal recessive early-onset |
| Reversed | 0 |
| HGVS | NC_000001.10:g.20972133T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002509.3, |
