rs281865052

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	6.5	Parkinson's disease mutation, adult-onset

Make rs281865052(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

40323255

Gene

LRRK2

is a	snp
is	mentioned by
dbSNP	rs281865052
dbSNP (classic)	rs281865052
ClinGen	rs281865052
ebi	rs281865052
HLI	rs281865052
Exac	rs281865052
Gnomad	rs281865052
Varsome	rs281865052
LitVar	rs281865052
Map	rs281865052
PheGenI	rs281865052
Biobank	rs281865052
1000 genomes	rs281865052
hgdp	rs281865052
ensembl	rs281865052
geneview	rs281865052
scholar	rs281865052
google	rs281865052
pharmgkb	rs281865052
gwascentral	rs281865052
openSNP	rs281865052
23andMe	rs281865052
SNPshot	rs281865052
SNPdbe	rs281865052
MSV3d	rs281865052
GWAS Ctlg	rs281865052

Max Magnitude

6.5

c.5605A>G (p.Met1869Val)

23andMe calls this i5045546

ClinVar
Risk	rs281865052(G;G)
Alt	rs281865052(G;G)
Reference	Rs281865052(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.40717057A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032486.1,

[PMID 16633828] A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.