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rs7133914

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs7133914(A;A)
Make rs7133914(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position40309109
GeneLRRK2
is asnp
is mentioned by
dbSNPrs7133914
ebirs7133914
HLIrs7133914
Exacrs7133914
Varsomers7133914
Maprs7133914
PheGenIrs7133914
hapmaprs7133914
1000 genomesrs7133914
hgdprs7133914
ensemblrs7133914
gopubmedrs7133914
geneviewrs7133914
scholarrs7133914
googlers7133914
pharmgkbrs7133914
gwascentralrs7133914
openSNPrs7133914
23andMers7133914
23andMe allrs7133914
SNP Nexus

SNPshotrs7133914
SNPdbers7133914
MSV3drs7133914
GWAS Ctlgrs7133914
GMAF0.09963
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM609007
DescLEUCINE-RICH REPEAT KINASE 2; LRRK2
Variant
Relatedalso
[PMID 18952485OA-icon.png] Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.


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


GET Evidence
LRRK2-R1398H
aa_change Arg1398His
aa_change_short R1398H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.09314
summary



[PMID 23962496OA-icon.png] The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants


ClinVar
Risk rs7133914(A;A)
Alt rs7133914(A;A)
Reference rs7133914(G;G)
Significance Unknown
Disease Parkinson disease 8
Variation info
Gene LRRK2
CLNDBN Parkinson disease 8, autosomal dominant
Reversed 0
HGVS NC_000012.11:g.40702911G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032452.1,