rs74163686

plus

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

Make rs74163686(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

40309225

Gene

LRRK2

is a	snp
is	mentioned by
dbSNP	rs74163686
dbSNP (classic)	rs74163686
ClinGen	rs74163686
ebi	rs74163686
HLI	rs74163686
Exac	rs74163686
Gnomad	rs74163686
Varsome	rs74163686
LitVar	rs74163686
Map	rs74163686
PheGenI	rs74163686
Biobank	rs74163686
1000 genomes	rs74163686
hgdp	rs74163686
ensembl	rs74163686
geneview	rs74163686
scholar	rs74163686
google	rs74163686
pharmgkb	rs74163686
gwascentral	rs74163686
openSNP	rs74163686
23andMe	rs74163686
SNPshot	rs74163686
SNPdbe	rs74163686
MSV3d	rs74163686
GWAS Ctlg	rs74163686

Max Magnitude

6.5

c.4309A>C (p.Asn1437His or N1437H)

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

ClinVar
Risk	rs74163686(C;C)
Alt	rs74163686(C;C)
Reference	Rs74163686(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.40703027A>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032457.1,

[PMID 21641848] Subclinical signs in LRRK2 mutation carriers.