rs35808389
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 6.5 | Parkinson's disease mutation, adult-onset |
| Make rs35808389(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 40298488 |
| Gene | LRRK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35808389 |
| dbSNP (classic) | rs35808389 |
| ClinGen | rs35808389 |
| ebi | rs35808389 |
| HLI | rs35808389 |
| Exac | rs35808389 |
| Gnomad | rs35808389 |
| Varsome | rs35808389 |
| LitVar | rs35808389 |
| Map | rs35808389 |
| PheGenI | rs35808389 |
| Biobank | rs35808389 |
| 1000 genomes | rs35808389 |
| hgdp | rs35808389 |
| ensembl | rs35808389 |
| geneview | rs35808389 |
| scholar | rs35808389 |
| rs35808389 | |
| pharmgkb | rs35808389 |
| gwascentral | rs35808389 |
| openSNP | rs35808389 |
| 23andMe | rs35808389 |
| SNPshot | rs35808389 |
| SNPdbe | rs35808389 |
| MSV3d | rs35808389 |
| GWAS Ctlg | rs35808389 |
| Max Magnitude | 6.5 |
c.3342A>G (p.Leu1114=)
| ClinVar | |
|---|---|
| Risk | rs35808389(G;G) |
| Alt | rs35808389(G;G) |
| Reference | Rs35808389(A;A) |
| Significance | Pathogenic |
| Disease | Parkinson disease 8 |
| Variation | info |
| Gene | LRRK2 |
| CLNDBN | Parkinson disease 8, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000012.11:g.40692290A>G |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032438.1, |
[PMID 15541309] Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
