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rs34995376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.5 Parkinson's disease mutation, adult-onset
(G;G) 0 common in clinvar


Make rs34995376(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position40310435
GeneLRRK2
is asnp
is mentioned by
dbSNPrs34995376
dbSNP (classic)rs34995376
ClinGenrs34995376
ebirs34995376
HLIrs34995376
Exacrs34995376
Gnomadrs34995376
Varsomers34995376
LitVarrs34995376
Maprs34995376
PheGenIrs34995376
Biobankrs34995376
1000 genomesrs34995376
hgdprs34995376
ensemblrs34995376
geneviewrs34995376
scholarrs34995376
googlers34995376
pharmgkbrs34995376
gwascentralrs34995376
openSNPrs34995376
23andMers34995376
SNPshotrs34995376
SNPdbers34995376
MSV3drs34995376
GWAS Ctlgrs34995376
Max Magnitude6.5

c.4322G>A (p.Arg1441His)

OMIM609007
Desc
Variant0008
Relatedalso


ClinVar
Risk rs34995376(A;A)
Alt rs34995376(A;A)
Reference Rs34995376(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.40704237G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002019.3,



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


[PMID 16172858] Lrrk2 pathogenic substitutions in Parkinson's disease.