rs1566999423
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
GAGAC
0.700
GeneticVariation
CLINVAR
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
30675029
2019
rs1566999601
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
GeneticVariation
CLINVAR
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
30675029
2019
rs1566999610
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
G
0.700
GeneticVariation
CLINVAR
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
30675029
2019
rs863223740
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
30675029
2019
rs886039177
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
G
0.700
GeneticVariation
CLINVAR
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
30675029
2019
rs863223740
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
GeneticVariation
CLINVAR
Aortic dilation, genetic testing, and associated diagnoses.
26133393
2016
rs863223740
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.
26854089
2016
rs387906850
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
25644172
2015
rs863223740
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
25944730
2015
rs768713596
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
24804794
2014
rs863223754
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
AC
0.700
CausalMutation
CLINVAR
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
24804794
2014
rs387906850
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
21217753
2011
rs768713596
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
21778426
2011
rs863223754
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
AC
0.700
CausalMutation
CLINVAR
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
21778426
2011
rs863223740
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
20101697
2010
rs863223740
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
15235019
2004
rs863223740
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Crystal structure of a phosphorylated Smad2. Recognition of phosphoserine by the MH2 domain and insights on Smad function in TGF-beta signaling.
11779503
2001
rs863223740
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Cooperative binding of Smad proteins to two adjacent DNA elements in the plasminogen activator inhibitor-1 promoter mediates transforming growth factor beta-induced smad-dependent transcriptional activation.
10092624
1999
rs1060500770
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
AGG
0.700
CausalMutation
CLINVAR
rs1060500771
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
GeneticVariation
CLINVAR
rs1060500773
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
G
0.700
CausalMutation
CLINVAR
rs1555405108
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
C
0.700
CausalMutation
CLINVAR
rs1555412069
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
AG
0.700
CausalMutation
CLINVAR
rs1555412070
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
GGC
0.700
CausalMutation
CLINVAR
rs1566999621
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
Familial thoracic aortic aneurysm and aortic dissection
G
0.700
CausalMutation
CLINVAR