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Variant (rsID / SNP)

rs200772603

SMAD4

rs200772603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,575,235. 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
18:48575235
Cytoband
18q21.2
HGVS
NM_005359.6(SMAD4):c.424+5G>A
Allele change
Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome|Familial thoracic aortic aneurysm and aortic dissection|Juvenile polyposis syndrome

Public references

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