rs35808389
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6.5 | Parkinson's disease mutation, adult-onset |
Make rs35808389(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 40298488 |
Gene | LRRK2 |
is a | snp |
is | mentioned by |
dbSNP | rs35808389 |
dbSNP (classic) | rs35808389 |
ClinGen | rs35808389 |
ebi | rs35808389 |
HLI | rs35808389 |
Exac | rs35808389 |
Gnomad | rs35808389 |
Varsome | rs35808389 |
LitVar | rs35808389 |
Map | rs35808389 |
PheGenI | rs35808389 |
Biobank | rs35808389 |
1000 genomes | rs35808389 |
hgdp | rs35808389 |
ensembl | rs35808389 |
geneview | rs35808389 |
scholar | rs35808389 |
rs35808389 | |
pharmgkb | rs35808389 |
gwascentral | rs35808389 |
openSNP | rs35808389 |
23andMe | rs35808389 |
SNPshot | rs35808389 |
SNPdbe | rs35808389 |
MSV3d | rs35808389 |
GWAS Ctlg | rs35808389 |
Max Magnitude | 6.5 |
c.3342A>G (p.Leu1114=)
ClinVar | |
---|---|
Risk | rs35808389(G;G) |
Alt | rs35808389(G;G) |
Reference | Rs35808389(A;A) |
Significance | Pathogenic |
Disease | Parkinson disease 8 |
Variation | info |
Gene | LRRK2 |
CLNDBN | Parkinson disease 8, autosomal dominant |
Reversed | 0 |
HGVS | NC_000012.11:g.40692290A>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032438.1, |
[PMID 15541309] Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.