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rs33949390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 3.3x increased risk for Parkinson's disease
(C;G) 3.3x increased risk for Parkinson's disease
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome12
Position40320043
GeneLRRK2
is asnp
is mentioned by
dbSNPrs33949390
ebirs33949390
HLIrs33949390
Exacrs33949390
Varsomers33949390
Maprs33949390
PheGenIrs33949390
hapmaprs33949390
1000 genomesrs33949390
hgdprs33949390
ensemblrs33949390
gopubmedrs33949390
geneviewrs33949390
scholarrs33949390
googlers33949390
pharmgkbrs33949390
gwascentralrs33949390
openSNPrs33949390
23andMers33949390
23andMe allrs33949390
SNP Nexus

SNPshotrs33949390
SNPdbers33949390
MSV3drs33949390
GWAS Ctlgrs33949390
GMAF0.005051
Max Magnitude0
Also known as R1628P, rs33949390 is a SNP in the LRRK2 gene.

A study of Chinese patients with Parkinson's disease concluded that in this population, after adjustments were made for age, age of onset, and gender, rs33949390(C) carriers were 3.3x more likely to develop the disease than noncarriers (CI: 1.4- 7.9, p = 0.007).[PMID 18781329]

OMIM609007
DescLEUCINE-RICH REPEAT KINASE 2; LRRK2
Variant
Relatedalso

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


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


ClinVar
Risk rs33949390(A,C,T;A,C,T)
Alt rs33949390(A,C,T;A,C,T)
Reference rs33949390(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.40713845G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032472.1,



[PMID 18412265] Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.