rs33949390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 3.3x increased risk for Parkinson's disease | |
(C;G) | 3.3x increased risk for Parkinson's disease | |
(G;G) | 0 | normal |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 40320043 |
Gene | LRRK2 |
is a | snp |
is | mentioned by |
dbSNP | rs33949390 |
dbSNP (classic) | rs33949390 |
ClinGen | rs33949390 |
ebi | rs33949390 |
HLI | rs33949390 |
Exac | rs33949390 |
Gnomad | rs33949390 |
Varsome | rs33949390 |
LitVar | rs33949390 |
Map | rs33949390 |
PheGenI | rs33949390 |
Biobank | rs33949390 |
1000 genomes | rs33949390 |
hgdp | rs33949390 |
ensembl | rs33949390 |
geneview | rs33949390 |
scholar | rs33949390 |
rs33949390 | |
pharmgkb | rs33949390 |
gwascentral | rs33949390 |
openSNP | rs33949390 |
23andMe | rs33949390 |
SNPshot | rs33949390 |
SNPdbe | rs33949390 |
MSV3d | rs33949390 |
GWAS Ctlg | rs33949390 |
GMAF | 0.005051 |
Max Magnitude | 0 |
Also known as R1628P, rs33949390 is a SNP in the LRRK2 gene.
A study of Chinese patients with Parkinson's disease concluded that in this population, after adjustments were made for age, age of onset, and gender, rs33949390(C) carriers were 3.3x more likely to develop the disease than noncarriers (CI: 1.4- 7.9, p = 0.007).[PMID 18781329]
[PMID 19854095] The LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population
[PMID 20186690] Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study.
ClinVar | |
---|---|
Risk | rs33949390(A;A) Rs33949390(C;C) rs33949390(T;T) |
Alt | rs33949390(A;A) Rs33949390(C;C) rs33949390(T;T) |
Reference | Rs33949390(G;G) |
Significance | Other |
Disease | Parkinson disease 8 |
Variation | info |
Gene | LRRK2 |
CLNDBN | Parkinson disease 8, autosomal dominant |
Reversed | 0 |
HGVS | NC_000012.11:g.40713845G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000032472.2, |
[PMID 18412265] Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.