rs3761863
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs3761863(A;G) |
Make rs3761863(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 40364850 |
Gene | LOC105369736, LRRK2 |
is a | snp |
is | mentioned by |
dbSNP | rs3761863 |
dbSNP (classic) | rs3761863 |
ClinGen | rs3761863 |
ebi | rs3761863 |
HLI | rs3761863 |
Exac | rs3761863 |
Gnomad | rs3761863 |
Varsome | rs3761863 |
LitVar | rs3761863 |
Map | rs3761863 |
PheGenI | rs3761863 |
Biobank | rs3761863 |
1000 genomes | rs3761863 |
hgdp | rs3761863 |
ensembl | rs3761863 |
geneview | rs3761863 |
scholar | rs3761863 |
rs3761863 | |
pharmgkb | rs3761863 |
gwascentral | rs3761863 |
openSNP | rs3761863 |
23andMe | rs3761863 |
SNPshot | rs3761863 |
SNPdbe | rs3761863 |
MSV3d | rs3761863 |
GWAS Ctlg | rs3761863 |
GMAF | 0.4495 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 23967090] Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus
ClinVar | |
---|---|
Risk | rs3761863(G;G) |
Alt | rs3761863(G;G) |
Reference | Rs3761863(A;A) |
Significance | Non-pathogenic |
Disease | Parkinson disease 8 |
Variation | info |
Gene | LRRK2 |
CLNDBN | Parkinson disease 8, autosomal dominant |
Reversed | 1 |
HGVS | NC_000012.11:g.40758652T\x3d; NC_000012.11:g.40758652T>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032513.1, RCV000375193.1, |
[PMID 16960813] 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 17614198] Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.
[PMID 18952485] Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
[PMID 26844546] A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Responses in Leprosy.