Sensitive

Colorectal cancer

COL4A2 · rs7993934

Where this position leads

Condition: Colorectal Cancer

rs7993934 Condition: Colorectal Cancer Colorectal Cancer Condition rs7993934 rs7993934 COL4A2

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 31,197 European ancestry cases, 61,770 European ancestry controls.

The effect Each copy of the T allele carried 1.08 times the odds of Colorectal cancer (95% confidence interval 1.05-1.10); p = 3 × 10−11.

How common The T allele had a frequency of about 65% in the people studied.

Where it sits Chromosome 13, band 13q34 — in an intron of COL4A2.

How common each version is

CT
Korean KRGDB
C 23.0% · T 77.0%
Korean Korea4K
C 23.7% · T 76.3%
Korean Korea1K
C 24.4% · T 75.5%
Japanese ToMMo
C 26.9% · T 73.2%
Vietnamese
C 29.2% · T 70.8%
World gnomAD
C 43.5% · T 56.5%
World 1000 Genomes
C 41.7% · T 58.3%
World TOPMed
C 44.6% · T 55.4%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

C/C No copy of the version the research linked to Colorectal cancer. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Colorectal cancer. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Colorectal cancer. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs7993934

What is rs7993934?

rs7993934 is a single position in the genome, in or near the COL4A2 gene. Published research associates it with colorectal cancer. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs7993934 linked to?

On MyGeneLog this position is linked to Colorectal Cancer. The research behind each link, and its sources, are set out on that condition page.

Does having rs7993934 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs7993934 come from?

GWAS Catalog, Nat Commun 2019, PMID:31089142. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Colorectal cancer (rs7993934). MyGeneLog™. https://www.mygenelog.com/variants/rs7993934

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