rs751037529
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;G) | 3 | Carrier of an early-onset Parkinson's disease mutation |
(G;G) | 9 | Early-onset (juvenile) Parkinson's disease likely |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 161785793 |
Gene | PARK2 |
is a | snp |
is | mentioned by |
dbSNP | rs751037529 |
dbSNP (classic) | rs751037529 |
ClinGen | rs751037529 |
ebi | rs751037529 |
HLI | rs751037529 |
Exac | rs751037529 |
Gnomad | rs751037529 |
Varsome | rs751037529 |
LitVar | rs751037529 |
Map | rs751037529 |
PheGenI | rs751037529 |
Biobank | rs751037529 |
1000 genomes | rs751037529 |
hgdp | rs751037529 |
ensembl | rs751037529 |
geneview | rs751037529 |
scholar | rs751037529 |
rs751037529 | |
pharmgkb | rs751037529 |
gwascentral | rs751037529 |
openSNP | rs751037529 |
23andMe | rs751037529 |
SNPshot | rs751037529 |
SNPdbe | rs751037529 |
MSV3d | rs751037529 |
GWAS Ctlg | rs751037529 |
Max Magnitude | 9 |
c.850G>C (p.Gly284Arg)
23andMe calls this i5047029
ClinVar | |
---|---|
Risk | Rs751037529(G;G) |
Alt | Rs751037529(G;G) |
Reference | Rs751037529(C;C) |
Significance | Pathogenic |
Disease | Parkinson disease 2 |
Variation | info |
Gene | PARK2 |
CLNDBN | Parkinson disease 2 |
Reversed | 0 |
HGVS | NC_000006.11:g.162206825C>G |
CLNSRC | |
CLNACC | RCV000460040.1, |