Variant (rsID / SNP)
rs752243771
rs752243771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,573,675. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SMAD4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:48573675
- Cytoband
- 18q21.2
- HGVS
- NM_005359.6(SMAD4):c.249+10A>C
- Allele change
- Silent
Associated conditions / phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.