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rs11564148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs11564148(A;A)
Make rs11564148(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position40320099
GeneLRRK2
is asnp
is mentioned by
dbSNPrs11564148
ebirs11564148
HLIrs11564148
Exacrs11564148
Varsomers11564148
Maprs11564148
PheGenIrs11564148
hapmaprs11564148
1000 genomesrs11564148
hgdprs11564148
ensemblrs11564148
gopubmedrs11564148
geneviewrs11564148
scholarrs11564148
googlers11564148
pharmgkbrs11564148
gwascentralrs11564148
openSNPrs11564148
23andMers11564148
23andMe allrs11564148
SNP Nexus

SNPshotrs11564148
SNPdbers11564148
MSV3drs11564148
GWAS Ctlgrs11564148
GMAF0.2755
Max Magnitude0
? (A;A) (A;T) (T;T) 28
OMIM609007
DescLEUCINE-RICH REPEAT KINASE 2; LRRK2
Variant
Relatedalso
[PMID 15726496OA-icon.png] Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.


[PMID 16960813OA-icon.png] LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.


[PMID 18952485OA-icon.png] Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.


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


GET Evidence
LRRK2-S1647T
aa_change Ser1647Thr
aa_change_short S1647T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.257587
summary



ClinVar
Risk rs11564148(A;A)
Alt rs11564148(A;A)
Reference rs11564148(T;T)
Significance Unknown
Disease Parkinson disease 8
Variation info
Gene LRRK2
CLNDBN Parkinson disease 8, autosomal dominant
Reversed 0
HGVS NC_000012.11:g.40713901T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032475.1,