rs34778348

plus

Geno	Mag	Summary
(A;A)		2.1x increased risk for Parkinson's disease
(A;G)		2.1x increased risk for Parkinson's disease
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

12

Position

40363526

Gene	LOC105369736, LRRK2

is a	snp
is	mentioned by
dbSNP	rs34778348
dbSNP (classic)	rs34778348
ClinGen	rs34778348
ebi	rs34778348
HLI	rs34778348
Exac	rs34778348
Gnomad	rs34778348
Varsome	rs34778348
LitVar	rs34778348
Map	rs34778348
PheGenI	rs34778348
Biobank	rs34778348
1000 genomes	rs34778348
hgdp	rs34778348
ensembl	rs34778348
geneview	rs34778348
scholar	rs34778348
google	rs34778348
pharmgkb	rs34778348
gwascentral	rs34778348
openSNP	rs34778348
23andMe	rs34778348
SNPshot	rs34778348
SNPdbe	rs34778348
MSV3d	rs34778348
GWAS Ctlg	rs34778348

GMAF

0.009642

Max Magnitude

0

Uniprot
Accession	Q5S007
Name	Leucine-rich repeat serine/threonine-protein ...
PMID	[PMID 15541309], [PMID 16541075], [PMID 17974005], [PMID 16081470], [PMID 16321986], [PMID 16087219], [PMID 16269541], [PMID 16352719], [PMID 16532471], [PMID 15541308], [PMID 15726496], [PMID 15732108], [PMID 15852371], [PMID 16240353], [PMID 15880653], [PMID 15929036], [PMID 16251215], [PMID 16272164], [PMID 16333314], [PMID 16272257], [PMID 15680455], [PMID 15680456], [PMID 15680457], [PMID 15811454], [PMID 16001413], [PMID 16250030], [PMID 16172858], [PMID 16157901], [PMID 16247070], [PMID 16157908], [PMID 16157909], [PMID 15925109], [PMID 16298482], [PMID 16102999], [PMID 16533964], [PMID 17019612], [PMID 17344846], [PMID 18213618]

In perfect contrast to another SNP also within the LRRK2 gene, rs34637584, this SNP, rs34778348, is not found in Caucasian populations but is found in Asian populations.

A case-control study of 989 Chinese subjects concluded that the odds ratio for Parkinson's disease was 2.1 for rs34778348(A) carriers (CI: 1.1-3.9, p = 0.014). This SNP was estimated to account for 4% of all Parkinson cases in this population.[PMID 17019612]

23andMe blog Parkinson's disease

[PMID 19854095] The LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population

OMIM	609007
Desc	LEUCINE-RICH REPEAT KINASE 2; LRRK2
Variant
Related	also

OMIM	609007
Desc
Variant	0009
Related	also

GWAS snp
PMID	[PMID 22438815 ]
Trait
Title	Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
Risk Allele
P-val	3E-21
Odds Ratio	2.2300 None

ClinVar
Risk	Rs34778348(A;A)
Alt	Rs34778348(A;A)
Reference	Rs34778348(G;G)
Significance	Other
Disease	Parkinson disease 8
Variation	info
Gene	LRRK2
CLNDBN	Parkinson disease 8, autosomal dominant
Reversed	0
HGVS	NC_000012.11:g.40757328G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032508.6,

[PMID 19343804 ] LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.

[PMID 20186690] Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study.

[PMID 23651603 ] P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population

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