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rs34778348

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome12
Position40363526
GeneLRRK2
is asnp
is mentioned by
dbSNPrs34778348
ebirs34778348
HLIrs34778348
Exacrs34778348
Varsomers34778348
Maprs34778348
PheGenIrs34778348
hapmaprs34778348
1000 genomesrs34778348
hgdprs34778348
ensemblrs34778348
gopubmedrs34778348
geneviewrs34778348
scholarrs34778348
googlers34778348
pharmgkbrs34778348
gwascentralrs34778348
openSNPrs34778348
23andMers34778348
23andMe allrs34778348
SNP Nexus

SNPshotrs34778348
SNPdbers34778348
MSV3drs34778348
GWAS Ctlgrs34778348
GMAF0.009642
Max Magnitude0
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

OMIM609007
DescLEUCINE-RICH REPEAT KINASE 2; LRRK2
Variant
Relatedalso
OMIM609007
Desc
Variant0009
Relatedalso
GWAS snp
PMID [PMID 22438815OA-icon.png]
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
CLNACC RCV000032508.4,



[PMID 19343804OA-icon.png] 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.


GET Evidence
LRRK2-G2385R
aa_change Gly2385Arg
aa_change_short G2385R
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 9.2971e-05
summary



[PMID 23651603OA-icon.png] 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.