rs267607134
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267607134(A;A) |
Make rs267607134(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 129818752 |
Gene | TOR1A |
is a | snp |
is | mentioned by |
dbSNP | rs267607134 |
dbSNP (classic) | rs267607134 |
ClinGen | rs267607134 |
ebi | rs267607134 |
HLI | rs267607134 |
Exac | rs267607134 |
Gnomad | rs267607134 |
Varsome | rs267607134 |
LitVar | rs267607134 |
Map | rs267607134 |
PheGenI | rs267607134 |
Biobank | rs267607134 |
1000 genomes | rs267607134 |
hgdp | rs267607134 |
ensembl | rs267607134 |
geneview | rs267607134 |
scholar | rs267607134 |
rs267607134 | |
pharmgkb | rs267607134 |
gwascentral | rs267607134 |
openSNP | rs267607134 |
23andMe | rs267607134 |
SNPshot | rs267607134 |
SNPdbe | rs267607134 |
MSV3d | rs267607134 |
GWAS Ctlg | rs267607134 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607134(A;A) |
Alt | rs267607134(A;A) |
Reference | Rs267607134(T;T) |
Significance | Pathogenic |
Disease | Dystonia 1 Dystonia 1 not provided |
Variation | info |
Gene | TOR1A |
CLNDBN | Dystonia 1, torsion, late-onset Dystonia 1 not provided |
Reversed | 1 |
HGVS | NC_000009.11:g.132581031A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005491.4, RCV000258917.1, RCV000296896.2, |