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Variant (rsID / SNP)

rs756795016

SMAD4

rs756795016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,604,822. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMAD4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:48604822
Cytoband
18q21.2
HGVS
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)
Allele change
Synonymous_P548P

Associated conditions / phenotypes

Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome|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.