rs33939927
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.5 | Parkinson's disease mutation, adult-onset |
| (C;C) | 0 | common in clinvar |
| (C;G) | 6.5 | Parkinson's disease mutation, adult-onset |
| (C;T) | 6.5 | Parkinson's disease mutation, adult-onset |
| Make rs33939927(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 40310434 |
| Gene | LRRK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33939927 |
| dbSNP (classic) | rs33939927 |
| ClinGen | rs33939927 |
| ebi | rs33939927 |
| HLI | rs33939927 |
| Exac | rs33939927 |
| Gnomad | rs33939927 |
| Varsome | rs33939927 |
| LitVar | rs33939927 |
| Map | rs33939927 |
| PheGenI | rs33939927 |
| Biobank | rs33939927 |
| 1000 genomes | rs33939927 |
| hgdp | rs33939927 |
| ensembl | rs33939927 |
| geneview | rs33939927 |
| scholar | rs33939927 |
| rs33939927 | |
| pharmgkb | rs33939927 |
| gwascentral | rs33939927 |
| openSNP | rs33939927 |
| 23andMe | rs33939927 |
| SNPshot | rs33939927 |
| SNPdbe | rs33939927 |
| MSV3d | rs33939927 |
| GWAS Ctlg | rs33939927 |
| Max Magnitude | 6.5 |
rs33939927 represents a rare mutation in the LRRK2 gene on chromosome 12. The normal allele is (C); all three possible variants are reported as considered causative for Parkinson's disease. The three variants are also known as c.4321C>A, p.Arg1441Ser; c.4321C>T (p.Arg1441Cys); and c.4321C>G (p.Arg1441Gly).
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease (type 8).
| ClinVar | |
|---|---|
| Risk | rs33939927(A;A) rs33939927(G;G) rs33939927(T;T) |
| Alt | rs33939927(A;A) rs33939927(G;G) rs33939927(T;T) |
| Reference | Rs33939927(C;C) |
| Significance | Pathogenic |
| Disease | Parkinson disease Parkinson disease 8 |
| Variation | info |
| Gene | LRRK2 |
| CLNDBN | Parkinson disease, late-onset Parkinson disease 8, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000012.11:g.40704236C>A; NC_000012.11:g.40704236C>G; NC_000012.11:g.40704236C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000210925.1, RCV000002013.3, RCV000002015.3, |
[PMID 15541309] Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
[PMID 15541308] Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.
