Variant (rsID / SNP)

rs10470

rs10470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,606,016. Clinical significance in the table: Benign.

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Reference-table entries

SMAD4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:48606016
Cytoband: 18q21.2
HGVS: NM_005359.6(SMAD4):c.*1179T>C
Allele change: Silent

Associated conditions / phenotypes

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

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.