rs35801418

plus

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

Make rs35801418(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

40321114

Gene

LRRK2

is a	snp
is	mentioned by
dbSNP	rs35801418
dbSNP (classic)	rs35801418
ClinGen	rs35801418
ebi	rs35801418
HLI	rs35801418
Exac	rs35801418
Gnomad	rs35801418
Varsome	rs35801418
LitVar	rs35801418
Map	rs35801418
PheGenI	rs35801418
Biobank	rs35801418
1000 genomes	rs35801418
hgdp	rs35801418
ensembl	rs35801418
geneview	rs35801418
scholar	rs35801418
google	rs35801418
pharmgkb	rs35801418
gwascentral	rs35801418
openSNP	rs35801418
23andMe	rs35801418
SNPshot	rs35801418
SNPdbe	rs35801418
MSV3d	rs35801418
GWAS Ctlg	rs35801418

Max Magnitude

6.5

c.5096A>G (p.Tyr1699Cys or Y1699C)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disorder (type 8)

OMIM	609007
Desc
Variant	0002
Related	also

ClinVar
Risk	rs35801418(G;G)
Alt	rs35801418(G;G)
Reference	Rs35801418(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.40714916A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002014.3,

[PMID 15541308] Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

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