rs397515578
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTG;CTG) | 0 | common in clinvar |
Make rs397515578(-;-) |
Make rs397515578(-;CTG) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41984933 |
Gene | ATP1A3 |
is a | snp |
is | mentioned by |
dbSNP | rs397515578 |
dbSNP (classic) | rs397515578 |
ClinGen | rs397515578 |
ebi | rs397515578 |
HLI | rs397515578 |
Exac | rs397515578 |
Gnomad | rs397515578 |
Varsome | rs397515578 |
LitVar | rs397515578 |
Map | rs397515578 |
PheGenI | rs397515578 |
Biobank | rs397515578 |
1000 genomes | rs397515578 |
hgdp | rs397515578 |
ensembl | rs397515578 |
geneview | rs397515578 |
scholar | rs397515578 |
rs397515578 | |
pharmgkb | rs397515578 |
gwascentral | rs397515578 |
openSNP | rs397515578 |
23andMe | rs397515578 |
SNPshot | rs397515578 |
SNPdbe | rs397515578 |
MSV3d | rs397515578 |
GWAS Ctlg | rs397515578 |
Merged from | Rs606231429 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515578(-;-) |
Alt | rs397515578(-;-) |
Reference | Rs397515578(CTG;CTG) |
Significance | Pathogenic |
Disease | Dystonia 12 |
Variation | info |
Gene | ATP1A3 |
CLNDBN | Dystonia 12 |
Reversed | 1 |
HGVS | NC_000019.9:g.42489082_42489084delCAG |
CLNSRC | GeneReviews |
CLNACC | RCV000148307.1, |