rs869320661
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869320661(A;A) |
Make rs869320661(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 41984965 |
Gene | ATP1A3 |
is a | snp |
is | mentioned by |
dbSNP | rs869320661 |
dbSNP (classic) | rs869320661 |
ClinGen | rs869320661 |
ebi | rs869320661 |
HLI | rs869320661 |
Exac | rs869320661 |
Gnomad | rs869320661 |
Varsome | rs869320661 |
LitVar | rs869320661 |
Map | rs869320661 |
PheGenI | rs869320661 |
Biobank | rs869320661 |
1000 genomes | rs869320661 |
hgdp | rs869320661 |
ensembl | rs869320661 |
geneview | rs869320661 |
scholar | rs869320661 |
rs869320661 | |
pharmgkb | rs869320661 |
gwascentral | rs869320661 |
openSNP | rs869320661 |
23andMe | rs869320661 |
SNPshot | rs869320661 |
SNPdbe | rs869320661 |
MSV3d | rs869320661 |
GWAS Ctlg | rs869320661 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320661(A;A) |
Alt | rs869320661(A;A) |
Reference | Rs869320661(G;G) |
Significance | Pathogenic |
Disease | Dystonia 12 |
Variation | info |
Gene | ATP1A3 |
CLNDBN | Dystonia 12 |
Reversed | 1 |
HGVS | NC_000019.9:g.42489117C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210848.2, |