rs281865054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.5 | Parkinson's disease mutation, adult-onset |
Make rs281865054(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 40323270 |
Gene | LRRK2 |
is a | snp |
is | mentioned by |
dbSNP | rs281865054 |
dbSNP (classic) | rs281865054 |
ClinGen | rs281865054 |
ebi | rs281865054 |
HLI | rs281865054 |
Exac | rs281865054 |
Gnomad | rs281865054 |
Varsome | rs281865054 |
LitVar | rs281865054 |
Map | rs281865054 |
PheGenI | rs281865054 |
Biobank | rs281865054 |
1000 genomes | rs281865054 |
hgdp | rs281865054 |
ensembl | rs281865054 |
geneview | rs281865054 |
scholar | rs281865054 |
rs281865054 | |
pharmgkb | rs281865054 |
gwascentral | rs281865054 |
openSNP | rs281865054 |
23andMe | rs281865054 |
SNPshot | rs281865054 |
SNPdbe | rs281865054 |
MSV3d | rs281865054 |
GWAS Ctlg | rs281865054 |
Max Magnitude | 6.5 |
c.5620G>T (p.Glu1874Ter)
23andMe calls this i5045553
ClinVar | |
---|---|
Risk | rs281865054(A;A) rs281865054(T;T) |
Alt | rs281865054(A;A) rs281865054(T;T) |
Reference | Rs281865054(G;G) |
Significance | Pathogenic |
Disease | Parkinson disease 8 |
Variation | info |
Gene | LRRK2 |
CLNDBN | Parkinson disease 8, autosomal dominant |
Reversed | 0 |
HGVS | NC_000012.11:g.40717072G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032489.1, |
[PMID 16633828] A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.