rs756677845
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 8.9 | Parkinson's disease, type 6, early-onset |
(-;G) | 3 | Carrier of an early-onset Parkinson's mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 20638074 |
Gene | PINK1 |
is a | snp |
is | mentioned by |
dbSNP | rs756677845 |
dbSNP (classic) | rs756677845 |
ClinGen | rs756677845 |
ebi | rs756677845 |
HLI | rs756677845 |
Exac | rs756677845 |
Gnomad | rs756677845 |
Varsome | rs756677845 |
LitVar | rs756677845 |
Map | rs756677845 |
PheGenI | rs756677845 |
Biobank | rs756677845 |
1000 genomes | rs756677845 |
hgdp | rs756677845 |
ensembl | rs756677845 |
geneview | rs756677845 |
scholar | rs756677845 |
rs756677845 | |
pharmgkb | rs756677845 |
gwascentral | rs756677845 |
openSNP | rs756677845 |
23andMe | rs756677845 |
SNPshot | rs756677845 |
SNPdbe | rs756677845 |
MSV3d | rs756677845 |
GWAS Ctlg | rs756677845 |
Max Magnitude | 8.9 |
c.620delG (p.Arg207Glnfs)
ClinVar | |
---|---|
Risk | Rs756677845(-;-) |
Alt | Rs756677845(-;-) |
Reference | Rs756677845(G;G) |
Significance | Pathogenic |
Disease | Parkinson disease 6 |
Variation | info |
Gene | PINK1 |
CLNDBN | Parkinson disease 6, autosomal recessive early-onset |
Reversed | 0 |
HGVS | NC_000001.10:g.20964567delG |
CLNSRC | |
CLNACC | RCV000169671.1, |