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rs281865054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.5 Parkinson's disease mutation, adult-onset
Make rs281865054(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position40323270
GeneLRRK2
is asnp
is mentioned by
dbSNPrs281865054
dbSNP (classic)rs281865054
ClinGenrs281865054
ebirs281865054
HLIrs281865054
Exacrs281865054
Gnomadrs281865054
Varsomers281865054
LitVarrs281865054
Maprs281865054
PheGenIrs281865054
Biobankrs281865054
1000 genomesrs281865054
hgdprs281865054
ensemblrs281865054
geneviewrs281865054
scholarrs281865054
googlers281865054
pharmgkbrs281865054
gwascentralrs281865054
openSNPrs281865054
23andMers281865054
SNPshotrs281865054
SNPdbers281865054
MSV3drs281865054
GWAS Ctlgrs281865054
Max Magnitude6.5

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.