rs74163686
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 6.5 | Parkinson's disease mutation, adult-onset |
Make rs74163686(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 40309225 |
Gene | LRRK2 |
is a | snp |
is | mentioned by |
dbSNP | rs74163686 |
dbSNP (classic) | rs74163686 |
ClinGen | rs74163686 |
ebi | rs74163686 |
HLI | rs74163686 |
Exac | rs74163686 |
Gnomad | rs74163686 |
Varsome | rs74163686 |
LitVar | rs74163686 |
Map | rs74163686 |
PheGenI | rs74163686 |
Biobank | rs74163686 |
1000 genomes | rs74163686 |
hgdp | rs74163686 |
ensembl | rs74163686 |
geneview | rs74163686 |
scholar | rs74163686 |
rs74163686 | |
pharmgkb | rs74163686 |
gwascentral | rs74163686 |
openSNP | rs74163686 |
23andMe | rs74163686 |
SNPshot | rs74163686 |
SNPdbe | rs74163686 |
MSV3d | rs74163686 |
GWAS Ctlg | rs74163686 |
Max Magnitude | 6.5 |
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.