rs794727053
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727053(-;-) |
Make rs794727053(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 140017726 |
Gene | TBXAS1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727053 |
dbSNP (classic) | rs794727053 |
ClinGen | rs794727053 |
ebi | rs794727053 |
HLI | rs794727053 |
Exac | rs794727053 |
Gnomad | rs794727053 |
Varsome | rs794727053 |
LitVar | rs794727053 |
Map | rs794727053 |
PheGenI | rs794727053 |
Biobank | rs794727053 |
1000 genomes | rs794727053 |
hgdp | rs794727053 |
ensembl | rs794727053 |
geneview | rs794727053 |
scholar | rs794727053 |
rs794727053 | |
pharmgkb | rs794727053 |
gwascentral | rs794727053 |
openSNP | rs794727053 |
23andMe | rs794727053 |
SNPshot | rs794727053 |
SNPdbe | rs794727053 |
MSV3d | rs794727053 |
GWAS Ctlg | rs794727053 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727053(-;-) |
Alt | rs794727053(-;-) |
Reference | Rs794727053(G;G) |
Significance | Pathogenic |
Disease | Ghosal syndrome |
Variation | info |
Gene | TBXAS1 |
CLNDBN | Ghosal syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.139717526delG |
CLNSRC | |
CLNACC | RCV000174274.1, |