SMAD9 Chromosome 13
SMAD family member 9
Upload your DNA to see your personal genotypes for variants in SMAD9.
What This Gene Does
The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
SMAD family
Locus Type
gene with protein product
Location
13q13.3
Ensembl
ENSG00000120693
Associated Conditions (6)
Pulmonary hypertension
primary
2
Pulmonary arterial hypertension associated with congenital heart disease
Inborn genetic diseases
SMAD9-related disorder
Key Variants
RS111748421
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 2
Health Risk
RS121918359
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 2
Health Risk
RS1375423378
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 2
Health Risk
RS138822893
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 2
Health Risk
RS142213379
Conflicting classifications of pathogenicity
Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary hypertension, primary
Health Risk
RS143817493
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 2
Health Risk
RS552330205
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 2
Health Risk
RS770716081
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 2
Health Risk
RS78249575
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 2
Health Risk
RS2138382043
Likely pathogenic
Pulmonary hypertension, primary, 2
Health Risk
RS765156859
Likely pathogenic
Pulmonary hypertension, primary, 2
Health Risk
RS1162780893
Pathogenic
Pulmonary hypertension, primary, 2
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111748421 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 2 |
| RS121918359 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 2 |
| RS1375423378 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 2 |
| RS138822893 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 2 |
| RS142213379 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary hypertension, primary |
| RS143817493 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 2 |
| RS552330205 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 2 |
| RS770716081 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 2 |
| RS78249575 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 2 |
| RS2138382043 | Health Risk | Likely pathogenic | Pulmonary hypertension, primary, 2 |
| RS765156859 | Health Risk | Likely pathogenic | Pulmonary hypertension, primary, 2 |
| RS1162780893 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 2 |
| RS2138492919 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 2 |
| RS2500815485 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 2 |
| RS397514716 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 2 |
| RS553369182 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 2 |
| RS146583835 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary arterial hypertension associated with congenital heart disease |
| RS781661592 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary hypertension, primary, 2 |