Standard

Bicarbonate (maximum, inv-norm transformed)

COL4A2 · rs1888004

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, 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 112,830 African American or Afro-Caribbean individuals, 54,558 Hispanic or Latin American individuals, 5,460 East Asian ancestry individuals, 412,277 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0174 lower (95% confidence interval 0.013-0.022); p = 2 × 10−12.

How common The T allele had a frequency of about 60% in the people studied.

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

What each result means

C/C No copy of the version the research linked to Bicarbonate (maximum, inv-norm transformed). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Bicarbonate (maximum, inv-norm transformed). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Bicarbonate (maximum, inv-norm transformed). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs1888004

What is rs1888004?

rs1888004 is a single position in the genome, in or near the COL4A2 gene. Published research associates it with bicarbonate (maximum, inv-norm transformed). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1888004 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 rs1888004 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Bicarbonate (maximum, inv-norm transformed) (rs1888004). MyGeneLog™. https://www.mygenelog.com/variants/rs1888004

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