rs768713596
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs768713596(C;T) |
Make rs768713596(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 67164965 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs768713596 |
dbSNP (classic) | rs768713596 |
ClinGen | rs768713596 |
ebi | rs768713596 |
HLI | rs768713596 |
Exac | rs768713596 |
Gnomad | rs768713596 |
Varsome | rs768713596 |
LitVar | rs768713596 |
Map | rs768713596 |
PheGenI | rs768713596 |
Biobank | rs768713596 |
1000 genomes | rs768713596 |
hgdp | rs768713596 |
ensembl | rs768713596 |
geneview | rs768713596 |
scholar | rs768713596 |
rs768713596 | |
pharmgkb | rs768713596 |
gwascentral | rs768713596 |
openSNP | rs768713596 |
23andMe | rs768713596 |
SNPshot | rs768713596 |
SNPdbe | rs768713596 |
MSV3d | rs768713596 |
GWAS Ctlg | rs768713596 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768713596(T;T) |
Alt | rs768713596(T;T) |
Reference | Rs768713596(C;C) |
Significance | Pathogenic |
Disease | not provided Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | SMAD3 |
CLNDBN | not provided Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000015.9:g.67457303C>T |
CLNSRC | |
CLNACC | RCV000196995.2, RCV000473676.1, |