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rs74163686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6.5 Parkinson's disease mutation, adult-onset
Make rs74163686(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position40309225
GeneLRRK2
is asnp
is mentioned by
dbSNPrs74163686
dbSNP (classic)rs74163686
ClinGenrs74163686
ebirs74163686
HLIrs74163686
Exacrs74163686
Gnomadrs74163686
Varsomers74163686
LitVarrs74163686
Maprs74163686
PheGenIrs74163686
Biobankrs74163686
1000 genomesrs74163686
hgdprs74163686
ensemblrs74163686
geneviewrs74163686
scholarrs74163686
googlers74163686
pharmgkbrs74163686
gwascentralrs74163686
openSNPrs74163686
23andMers74163686
SNPshotrs74163686
SNPdbers74163686
MSV3drs74163686
GWAS Ctlgrs74163686
Max Magnitude6.5

c.4309A>C (p.Asn1437His or N1437H)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease (type 8)

ClinVar
Risk rs74163686(C;C)
Alt rs74163686(C;C)
Reference Rs74163686(A;A)
Significance Pathogenic
Disease Parkinson disease 8
Variation info
Gene LRRK2
CLNDBN Parkinson disease 8, autosomal dominant
Reversed 0
HGVS NC_000012.11:g.40703027A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032457.1,


[PMID 21641848] Subclinical signs in LRRK2 mutation carriers.