rs786205056
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | Parkinson's mutation, type 9, early-onset |
(A;G) | 3 | Carrier of a Parkinson's mutation, type 9, early-onset |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 16996381 |
Gene | ATP13A2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205056 |
dbSNP (classic) | rs786205056 |
ClinGen | rs786205056 |
ebi | rs786205056 |
HLI | rs786205056 |
Exac | rs786205056 |
Gnomad | rs786205056 |
Varsome | rs786205056 |
LitVar | rs786205056 |
Map | rs786205056 |
PheGenI | rs786205056 |
Biobank | rs786205056 |
1000 genomes | rs786205056 |
hgdp | rs786205056 |
ensembl | rs786205056 |
geneview | rs786205056 |
scholar | rs786205056 |
rs786205056 | |
pharmgkb | rs786205056 |
gwascentral | rs786205056 |
openSNP | rs786205056 |
23andMe | rs786205056 |
SNPshot | rs786205056 |
SNPdbe | rs786205056 |
MSV3d | rs786205056 |
GWAS Ctlg | rs786205056 |
Max Magnitude | 8 |
c.1306+5G>A
ClinVar | |
---|---|
Risk | Rs786205056(A;A) |
Alt | Rs786205056(A;A) |
Reference | Rs786205056(G;G) |
Significance | Pathogenic |
Disease | Parkinson disease 9 |
Variation | info |
Gene | ATP13A2 |
CLNDBN | Parkinson disease 9 |
Reversed | 1 |
HGVS | NC_000001.10:g.17322876C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001278.5, |