rs4939827 a variant in the SMAD7 gene

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs4939827 is the catalogue number of one of them, in the SMAD7 gene. Which letters you carry there — one copy from each parent — is your genotype.

SMAD7 (SMAD family member 7): The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3).

Gene description from NCBI Gene

rs4939827 is one of 3 SNPs in the SMAD7 gene associated with risk for colorectal cancer, based on a ...

From SNPedia

Why might it matter?

ClinVar records this variant as risk factor, meaning linked to a somewhat higher chance of a condition, not a cause on its own. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

• Colorectal cancer, susceptibility to
• 3

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID

rs4939827

Gene

SMAD7

Position (GRCh38)

chr18:48927092

Variant type

snv

Consequence

intron variant

ClinVar classification

risk factor

Genome-wide association studies (20)

How common the less frequent letter is

1kG AFR

69.5%

1kG ALL

64.7%

1kG AMR

35%

1kG EAS

31.1%

1kG EUR

53.2%

1kG SAS

28.1%

Sources

• dbSNP: rs4939827 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: SMAD7
• Ensembl: SMAD7
• GWAS Catalog — association studies

Related

• The SMAD7 gene
• SNP explorer
• Gene directory
• Health conditions