rs11176013
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs11176013(A;G) |
Make rs11176013(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 40320071 |
Gene | LRRK2 |
is a | snp |
is | mentioned by |
dbSNP | rs11176013 |
dbSNP (classic) | rs11176013 |
ClinGen | rs11176013 |
ebi | rs11176013 |
HLI | rs11176013 |
Exac | rs11176013 |
Gnomad | rs11176013 |
Varsome | rs11176013 |
LitVar | rs11176013 |
Map | rs11176013 |
PheGenI | rs11176013 |
Biobank | rs11176013 |
1000 genomes | rs11176013 |
hgdp | rs11176013 |
ensembl | rs11176013 |
geneview | rs11176013 |
scholar | rs11176013 |
rs11176013 | |
pharmgkb | rs11176013 |
gwascentral | rs11176013 |
openSNP | rs11176013 |
23andMe | rs11176013 |
SNPshot | rs11176013 |
SNPdbe | rs11176013 |
MSV3d | rs11176013 |
GWAS Ctlg | rs11176013 |
GMAF | 0.4642 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 23115130] Common variation in the LRRK2 gene is a risk factor for Parkinson's disease
ClinVar | |
---|---|
Risk | rs11176013(G;G) |
Alt | rs11176013(G;G) |
Reference | Rs11176013(A;A) |
Significance | Other |
Disease | Parkinson disease 8 |
Variation | info |
Gene | LRRK2 |
CLNDBN | Parkinson disease 8, autosomal dominant |
Reversed | 0 |
HGVS | NC_000012.11:g.40713873A>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032473.2, |
[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.