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rs35808389

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6.5 Parkinson's disease mutation, adult-onset
Make rs35808389(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position40298488
GeneLRRK2
is asnp
is mentioned by
dbSNPrs35808389
dbSNP (classic)rs35808389
ClinGenrs35808389
ebirs35808389
HLIrs35808389
Exacrs35808389
Gnomadrs35808389
Varsomers35808389
LitVarrs35808389
Maprs35808389
PheGenIrs35808389
Biobankrs35808389
1000 genomesrs35808389
hgdprs35808389
ensemblrs35808389
geneviewrs35808389
scholarrs35808389
googlers35808389
pharmgkbrs35808389
gwascentralrs35808389
openSNPrs35808389
23andMers35808389
SNPshotrs35808389
SNPdbers35808389
MSV3drs35808389
GWAS Ctlgrs35808389
Max Magnitude6.5

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.