rs35870237
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 6.5 | Parkinson's disease mutation, adult-onset |
| (T;T) | 0 | common in clinvar |
| Make rs35870237(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 40340404 |
| Gene | LRRK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35870237 |
| dbSNP (classic) | rs35870237 |
| ClinGen | rs35870237 |
| ebi | rs35870237 |
| HLI | rs35870237 |
| Exac | rs35870237 |
| Gnomad | rs35870237 |
| Varsome | rs35870237 |
| LitVar | rs35870237 |
| Map | rs35870237 |
| PheGenI | rs35870237 |
| Biobank | rs35870237 |
| 1000 genomes | rs35870237 |
| hgdp | rs35870237 |
| ensembl | rs35870237 |
| geneview | rs35870237 |
| scholar | rs35870237 |
| rs35870237 | |
| pharmgkb | rs35870237 |
| gwascentral | rs35870237 |
| openSNP | rs35870237 |
| 23andMe | rs35870237 |
| SNPshot | rs35870237 |
| SNPdbe | rs35870237 |
| MSV3d | rs35870237 |
| GWAS Ctlg | rs35870237 |
| Max Magnitude | 6.5 |
c.6059T>C (p.Ile2020Thr or I2020T)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease (type 8).
| ClinVar | |
|---|---|
| Risk | rs35870237(C;C) |
| Alt | rs35870237(C;C) |
| Reference | Rs35870237(T;T) |
| Significance | Pathogenic |
| Disease | Parkinson disease 8 |
| Variation | info |
| Gene | LRRK2 |
| CLNDBN | Parkinson disease 8, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000012.11:g.40734206T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002018.4, |
[PMID 15541309] Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
