rs35874463
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs35874463(A;G) |
Make rs35874463(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 67165360 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs35874463 |
dbSNP (classic) | rs35874463 |
ClinGen | rs35874463 |
ebi | rs35874463 |
HLI | rs35874463 |
Exac | rs35874463 |
Gnomad | rs35874463 |
Varsome | rs35874463 |
LitVar | rs35874463 |
Map | rs35874463 |
PheGenI | rs35874463 |
Biobank | rs35874463 |
1000 genomes | rs35874463 |
hgdp | rs35874463 |
ensembl | rs35874463 |
geneview | rs35874463 |
scholar | rs35874463 |
rs35874463 | |
pharmgkb | rs35874463 |
gwascentral | rs35874463 |
openSNP | rs35874463 |
23andMe | rs35874463 |
SNPshot | rs35874463 |
SNPdbe | rs35874463 |
MSV3d | rs35874463 |
GWAS Ctlg | rs35874463 |
Max Magnitude | 0 |
[PMID 26110764] Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases
ClinVar | |
---|---|
Risk | rs35874463(G;G) |
Alt | rs35874463(G;G) |
Reference | Rs35874463(A;A) |
Significance | Other |
Disease | not specified Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome |
Variation | info |
Gene | SMAD3 |
CLNDBN | not specified Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.67457698A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000128164.6, RCV000246765.2, RCV000405224.1, |