rs11564148
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs11564148(A;A) |
| Make rs11564148(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 40320099 |
| Gene | LRRK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11564148 |
| dbSNP (classic) | rs11564148 |
| ClinGen | rs11564148 |
| ebi | rs11564148 |
| HLI | rs11564148 |
| Exac | rs11564148 |
| Gnomad | rs11564148 |
| Varsome | rs11564148 |
| LitVar | rs11564148 |
| Map | rs11564148 |
| PheGenI | rs11564148 |
| Biobank | rs11564148 |
| 1000 genomes | rs11564148 |
| hgdp | rs11564148 |
| ensembl | rs11564148 |
| geneview | rs11564148 |
| scholar | rs11564148 |
| rs11564148 | |
| pharmgkb | rs11564148 |
| gwascentral | rs11564148 |
| openSNP | rs11564148 |
| 23andMe | rs11564148 |
| SNPshot | rs11564148 |
| SNPdbe | rs11564148 |
| MSV3d | rs11564148 |
| GWAS Ctlg | rs11564148 |
| GMAF | 0.2755 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 15726496
] Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.
[PMID 16960813] LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.
[PMID 18952485] Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
[PMID 19343804] LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.
| ClinVar | |
|---|---|
| Risk | rs11564148(A;A) |
| Alt | rs11564148(A;A) |
| Reference | Rs11564148(T;T) |
| Significance | Other |
| Disease | Parkinson disease 8 |
| Variation | info |
| Gene | LRRK2 |
| CLNDBN | Parkinson disease 8, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000012.11:g.40713901T>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000032475.2, |
