rs34995376
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.5 | Parkinson's disease mutation, adult-onset |
(G;G) | 0 | common in clinvar |
Make rs34995376(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 40310435 |
Gene | LRRK2 |
is a | snp |
is | mentioned by |
dbSNP | rs34995376 |
dbSNP (classic) | rs34995376 |
ClinGen | rs34995376 |
ebi | rs34995376 |
HLI | rs34995376 |
Exac | rs34995376 |
Gnomad | rs34995376 |
Varsome | rs34995376 |
LitVar | rs34995376 |
Map | rs34995376 |
PheGenI | rs34995376 |
Biobank | rs34995376 |
1000 genomes | rs34995376 |
hgdp | rs34995376 |
ensembl | rs34995376 |
geneview | rs34995376 |
scholar | rs34995376 |
rs34995376 | |
pharmgkb | rs34995376 |
gwascentral | rs34995376 |
openSNP | rs34995376 |
23andMe | rs34995376 |
SNPshot | rs34995376 |
SNPdbe | rs34995376 |
MSV3d | rs34995376 |
GWAS Ctlg | rs34995376 |
Max Magnitude | 6.5 |
c.4322G>A (p.Arg1441His)
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 18952485] Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
[PMID 16172858] Lrrk2 pathogenic substitutions in Parkinson's disease.