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Gene entry

SMAD3

SMAD family member 3

Chromosome
15
Cytoband
15q22.33
Variants (rsID)
76

SMAD3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q22.33). Its official name is “SMAD family member 3”. The reference table lists 76 variants (rsID) for this gene.

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Clinically classified variants

33 reference-table entries with clinical significance.

  • rs1065080Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aneurysm-osteoarthritis syndrome
  • rs117185005Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Cardiovascular phenotype|Aneurysm-osteoarthritis syndrome|Ehlers-Danlos syndrome
  • rs1057518977Conflicting interpretationssingle nucleotide variantVascular dilatation|Aneurysm-osteoarthritis syndrome
  • rs139616052Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Cardiovascular phenotype
  • rs150994304Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Cardiovascular phenotype
  • rs201912204Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Connective tissue disorder|Ehlers-Danlos syndrome
  • rs387906855Conflicting interpretationssingle nucleotide variantAneurysm-osteoarthritis syndrome|Cardiovascular phenotype
  • rs863223746Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Isolated thoracic aortic aneurysm
  • rs138550573Likely benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype
  • rs55970514Likely benignsingle nucleotide variantLoeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection
  • rs757106110Likely benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Cardiovascular phenotype|Aneurysm-osteoarthritis syndrome|Ehlers-Danlos syndrome
  • rs1060500771Likely pathogenicsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs201263330Likely pathogenicsingle nucleotide variant
  • rs587782977Likely pathogenicsingle nucleotide variantLoeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection
  • rs863223738Likely pathogenicsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs863223741Likely pathogenicsingle nucleotide variant
  • rs863223768Likely pathogenicDeletion
  • rs886038770Likely pathogenicsingle nucleotide variantCardiovascular phenotype
  • rs1060500770PathogenicDuplicationFamilial thoracic aortic aneurysm and aortic dissection
  • rs1060500773PathogenicDeletionFamilial thoracic aortic aneurysm and aortic dissection
  • rs387906851Pathogenicsingle nucleotide variantAneurysm-osteoarthritis syndrome
  • rs387906852Pathogenicsingle nucleotide variantAneurysm-osteoarthritis syndrome
  • rs387906856Pathogenicsingle nucleotide variantAneurysm-osteoarthritis syndrome
  • rs587776880PathogenicDeletionAneurysm-osteoarthritis syndrome
  • rs587776881PathogenicDeletionAneurysm-osteoarthritis syndrome|Familial thoracic aortic aneurysm and aortic dissection
  • rs753486471Pathogenicsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype
  • rs768713596Pathogenicsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs863223754PathogenicDuplicationFamilial thoracic aortic aneurysm and aortic dissection
  • rs863223759PathogenicDeletionFamilial thoracic aortic aneurysm and aortic dissection
  • rs863223770PathogenicDuplication
  • rs863223771PathogenicDeletion
  • rs387906854Uncertain significancesingle nucleotide variantAneurysm-osteoarthritis syndrome|Cardiovascular phenotype
  • rs730880215Uncertain significancesingle nucleotide variantLoeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.