rs724159981
From SNPedia
Merged into | rs80358233 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAG;GAG) | 0 | common in clinvar |
Make rs724159981(-;-) |
Make rs724159981(-;GAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 129814062 |
Gene | TOR1A |
is a | snp |
is | mentioned by |
dbSNP | rs724159981 |
dbSNP (classic) | rs724159981 |
ClinGen | rs724159981 |
ebi | rs724159981 |
HLI | rs724159981 |
Exac | rs724159981 |
Gnomad | rs724159981 |
Varsome | rs724159981 |
LitVar | rs724159981 |
Map | rs724159981 |
PheGenI | rs724159981 |
Biobank | rs724159981 |
1000 genomes | rs724159981 |
hgdp | rs724159981 |
ensembl | rs724159981 |
geneview | rs724159981 |
scholar | rs724159981 |
rs724159981 | |
pharmgkb | rs724159981 |
gwascentral | rs724159981 |
openSNP | rs724159981 |
23andMe | rs724159981 |
SNPshot | rs724159981 |
SNPdbe | rs724159981 |
MSV3d | rs724159981 |
GWAS Ctlg | rs724159981 |
Status | Merged into rs80358233 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs724159981(GAG;GAG) |
Significance | Pathogenic |
Disease | Dystonia 1 Dystonia |
Variation | info |
Gene | TOR1A |
CLNDBN | Dystonia 1 Dystonia |
Reversed | 1 |
HGVS | NC_000009.11:g.132576341_132576343delCTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005488.4, RCV000227741.1, |