Variant (rsID / SNP)

rs757106110

rs757106110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,479,795. Clinical significance in the table: Likely benign.

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Reference-table entries

SMAD3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:67479795
Cytoband: 15q22.33
HGVS: NM_005902.4(SMAD3):c.1102C>A (p.Arg368=)
Allele change: Nonsense_R368X

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Cardiovascular phenotype|Aneurysm-osteoarthritis syndrome|Ehlers-Danlos syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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