rs749798211
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 8 | Parkinson's mutation, type 9, early-onset |
(-;GAAGGGGTCGGAC) | 3 | Carrier of a Parkinson's mutation, type 9, early-onset |
(CAGGCTGGGGAAG;CAGGCTGGGGAAG) | 0 | common in clinvar |
(GAAGGGGTCGGAC;GAAGGGGTCGGAC) | 0 | common/normal |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 17004818 |
Gene | ATP13A2 |
is a | snp |
is | mentioned by |
dbSNP | rs749798211 |
dbSNP (classic) | rs749798211 |
ClinGen | rs749798211 |
ebi | rs749798211 |
HLI | rs749798211 |
Exac | rs749798211 |
Gnomad | rs749798211 |
Varsome | rs749798211 |
LitVar | rs749798211 |
Map | rs749798211 |
PheGenI | rs749798211 |
Biobank | rs749798211 |
1000 genomes | rs749798211 |
hgdp | rs749798211 |
ensembl | rs749798211 |
geneview | rs749798211 |
scholar | rs749798211 |
rs749798211 | |
pharmgkb | rs749798211 |
gwascentral | rs749798211 |
openSNP | rs749798211 |
23andMe | rs749798211 |
SNPshot | rs749798211 |
SNPdbe | rs749798211 |
MSV3d | rs749798211 |
GWAS Ctlg | rs749798211 |
Max Magnitude | 8 |
c.348-9_351del
ClinVar | |
---|---|
Risk | Rs749798211(-;-) |
Alt | Rs749798211(-;-) |
Reference | Rs749798211(CAGGCTGGGGAAG;CAGGCTGGGGAAG) |
Significance | Pathogenic |
Disease | Parkinson disease 9 |
Variation | info |
Gene | ATP13A2 |
CLNDBN | Parkinson disease 9 |
Reversed | 0 |
HGVS | NC_000001.10:g.17331313_17331325delCAGGCTGGGGAAG |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191064.1, |