Variant (rsID / SNP)

rs4939827

rs4939827 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD7. Location: chromosome 18, position 46,453,463. Clinical significance in the table: risk factor.

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Reference-table entries

SMAD7Risk factor

Clinical significance (as recorded): risk factor
Variant type: single nucleotide variant
Chromosome / position: 18:46453463
Cytoband: 18q21.1
HGVS: NM_005904.4(SMAD7):c.743-5183=
Allele change: Silent

Associated conditions / phenotypes

Colorectal cancer, susceptibility to, 3

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.