rs762033589
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common/normal |
(-;TC) | 3 | Carrier of a Parkinson's mutation, type 9, early-onset |
(TC;TC) | 8 | Parkinson's mutation, type 9, early-onset |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 16997112 |
Gene | ATP13A2 |
is a | snp |
is | mentioned by |
dbSNP | rs762033589 |
dbSNP (classic) | rs762033589 |
ClinGen | rs762033589 |
ebi | rs762033589 |
HLI | rs762033589 |
Exac | rs762033589 |
Gnomad | rs762033589 |
Varsome | rs762033589 |
LitVar | rs762033589 |
Map | rs762033589 |
PheGenI | rs762033589 |
Biobank | rs762033589 |
1000 genomes | rs762033589 |
hgdp | rs762033589 |
ensembl | rs762033589 |
geneview | rs762033589 |
scholar | rs762033589 |
rs762033589 | |
pharmgkb | rs762033589 |
gwascentral | rs762033589 |
openSNP | rs762033589 |
23andMe | rs762033589 |
SNPshot | rs762033589 |
SNPdbe | rs762033589 |
MSV3d | rs762033589 |
GWAS Ctlg | rs762033589 |
Max Magnitude | 8 |
c.1101_1102dupGA (p.Thr368Argfs)
ClinVar | |
---|---|
Risk | Rs762033589(TC;TC) |
Alt | Rs762033589(TC;TC) |
Reference | Rs762033589(-;-) |
Significance | Pathogenic |
Disease | Parkinson disease 9 |
Variation | info |
Gene | ATP13A2 |
CLNDBN | Parkinson disease 9 |
Reversed | 0 |
HGVS | NC_000001.10:g.17323608_17323609dupTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023818.4, |