Variant (rsID / SNP)
rs11663402
rs11663402 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,604,848. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SMAD4Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:48604848
- Cytoband
- 18q21.2
- HGVS
- NM_005359.6(SMAD4):c.*11C>T
- Allele change
- Silent
Associated conditions / phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Myhre syndrome|Hereditary cancer-predisposing syndrome|Familial thoracic aortic aneurysm and aortic dissection|Carcinoma of colon
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.