rs34995376

Orientation

plus

Stabilized

plus

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

Make rs34995376(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

40310435

Gene

LRRK2

is a	snp
is	mentioned by
dbSNP	rs34995376
dbSNP (classic)	rs34995376
ClinGen	rs34995376
ebi	rs34995376
HLI	rs34995376
Exac	rs34995376
Gnomad	rs34995376
Varsome	rs34995376
LitVar	rs34995376
Map	rs34995376
PheGenI	rs34995376
Biobank	rs34995376
1000 genomes	rs34995376
hgdp	rs34995376
ensembl	rs34995376
geneview	rs34995376
scholar	rs34995376
google	rs34995376
pharmgkb	rs34995376
gwascentral	rs34995376
openSNP	rs34995376
23andMe	rs34995376
SNPshot	rs34995376
SNPdbe	rs34995376
MSV3d	rs34995376
GWAS Ctlg	rs34995376

Max Magnitude

6.5

c.4322G>A (p.Arg1441His)

OMIM	609007
Desc
Variant	0008
Related	also

ClinVar
Risk	rs34995376(A;A)
Alt	rs34995376(A;A)
Reference	Rs34995376(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.40704237G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002019.3,

[PMID 18952485] Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

[PMID 16172858] Lrrk2 pathogenic substitutions in Parkinson's disease.