rs587776890
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 8 | Parkinson's mutation, type 9, early-onset |
(-;AA) | 3 | Carrier of a Parkinson's mutation, type 9, early-onset |
(AA;AA) | 0 | common in clinvar |
(TT;TT) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 16989747 |
Gene | ATP13A2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776890 |
dbSNP (classic) | rs587776890 |
ClinGen | rs587776890 |
ebi | rs587776890 |
HLI | rs587776890 |
Exac | rs587776890 |
Gnomad | rs587776890 |
Varsome | rs587776890 |
LitVar | rs587776890 |
Map | rs587776890 |
PheGenI | rs587776890 |
Biobank | rs587776890 |
1000 genomes | rs587776890 |
hgdp | rs587776890 |
ensembl | rs587776890 |
geneview | rs587776890 |
scholar | rs587776890 |
rs587776890 | |
pharmgkb | rs587776890 |
gwascentral | rs587776890 |
openSNP | rs587776890 |
23andMe | rs587776890 |
SNPshot | rs587776890 |
SNPdbe | rs587776890 |
MSV3d | rs587776890 |
GWAS Ctlg | rs587776890 |
Max Magnitude | 8 |
c.2552_2553delTT (p.Phe851Cysfs)
ClinVar | |
---|---|
Risk | Rs587776890(AA;AA) Rs587776890(-;-) |
Alt | Rs587776890(AA;AA) Rs587776890(-;-) |
Reference | Rs587776890(TT;TT) |
Significance | Pathogenic |
Disease | Parkinson disease 9 |
Variation | info |
Gene | ATP13A2 |
CLNDBN | Parkinson disease 9 |
Reversed | 1 |
HGVS | NC_000001.10:g.17316242_17316243delAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023819.6, |