Variant (rsID / SNP)

rs1060500771

rs1060500771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,459,192. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMAD3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:67459192
Cytoband: 15q22.33
HGVS: NM_005902.4(SMAD3):c.607+1G>T
Allele change: Silent

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection

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.