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Variant (rsID / SNP)

rs201912204

SMAD3

rs201912204 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,457,223. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMAD3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:67457223
Cytoband
15q22.33
HGVS
NM_005902.4(SMAD3):c.207-10G>A
Allele change
Silent

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Connective tissue disorder|Ehlers-Danlos syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.