rs199535970
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199535970(C;T) |
Make rs199535970(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 129822664 |
Gene | TOR1A |
is a | snp |
is | mentioned by |
dbSNP | rs199535970 |
dbSNP (classic) | rs199535970 |
ClinGen | rs199535970 |
ebi | rs199535970 |
HLI | rs199535970 |
Exac | rs199535970 |
Gnomad | rs199535970 |
Varsome | rs199535970 |
LitVar | rs199535970 |
Map | rs199535970 |
PheGenI | rs199535970 |
Biobank | rs199535970 |
1000 genomes | rs199535970 |
hgdp | rs199535970 |
ensembl | rs199535970 |
geneview | rs199535970 |
scholar | rs199535970 |
rs199535970 | |
pharmgkb | rs199535970 |
gwascentral | rs199535970 |
openSNP | rs199535970 |
23andMe | rs199535970 |
SNPshot | rs199535970 |
SNPdbe | rs199535970 |
MSV3d | rs199535970 |
GWAS Ctlg | rs199535970 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199535970(T;T) |
Alt | rs199535970(T;T) |
Reference | Rs199535970(C;C) |
Significance | Probable-Pathogenic |
Disease | Dystonia 1 not provided |
Variation | info |
Gene | TOR1A |
CLNDBN | Dystonia 1 not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.132584943C>T |
CLNSRC | |
CLNACC | RCV000258924.1, RCV000487817.1, |