rs727502811
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727502811(A;A) |
Make rs727502811(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 129814108 |
Gene | TOR1A |
is a | snp |
is | mentioned by |
dbSNP | rs727502811 |
dbSNP (classic) | rs727502811 |
ClinGen | rs727502811 |
ebi | rs727502811 |
HLI | rs727502811 |
Exac | rs727502811 |
Gnomad | rs727502811 |
Varsome | rs727502811 |
LitVar | rs727502811 |
Map | rs727502811 |
PheGenI | rs727502811 |
Biobank | rs727502811 |
1000 genomes | rs727502811 |
hgdp | rs727502811 |
ensembl | rs727502811 |
geneview | rs727502811 |
scholar | rs727502811 |
rs727502811 | |
pharmgkb | rs727502811 |
gwascentral | rs727502811 |
openSNP | rs727502811 |
23andMe | rs727502811 |
SNPshot | rs727502811 |
SNPdbe | rs727502811 |
MSV3d | rs727502811 |
GWAS Ctlg | rs727502811 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502811(A;A) |
Alt | rs727502811(A;A) |
Reference | Rs727502811(G;G) |
Significance | Other |
Disease | Dystonia 1 |
Variation | info |
Gene | TOR1A |
CLNDBN | Dystonia 1 |
Reversed | 1 |
HGVS | NC_000009.11:g.132576387C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000149874.5, |