rs34805604

Orientation

plus

Stabilized

plus

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

Make rs34805604(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

40299125

Gene

LRRK2

is a	snp
is	mentioned by
dbSNP	rs34805604
dbSNP (classic)	rs34805604
ClinGen	rs34805604
ebi	rs34805604
HLI	rs34805604
Exac	rs34805604
Gnomad	rs34805604
Varsome	rs34805604
LitVar	rs34805604
Map	rs34805604
PheGenI	rs34805604
Biobank	rs34805604
1000 genomes	rs34805604
hgdp	rs34805604
ensembl	rs34805604
geneview	rs34805604
scholar	rs34805604
google	rs34805604
pharmgkb	rs34805604
gwascentral	rs34805604
openSNP	rs34805604
23andMe	rs34805604
SNPshot	rs34805604
SNPdbe	rs34805604
MSV3d	rs34805604
GWAS Ctlg	rs34805604

Max Magnitude

6.5

c.3364A>G (p.Ile1122Val)

OMIM	609007
Desc
Variant	0005
Related	also

ClinVar
Risk	rs34805604(G;G)
Alt	rs34805604(G;G)
Reference	Rs34805604(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.40692927A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002016.3,

[PMID 15541309] Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.