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Gap junction alpha-1 protein levels (GJA1.9937.7.3)

near ITIH1 · rs2019065

What the study found

Who was studied 3,301 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.21 higher (95% confidence interval 0.15-0.27); p = 2 × 10−16.

How common The C allele had a frequency of about 39% in the people studied.

Where it sits Chromosome 3, band 3p21.1 — between genes, 2.1 kb from ITIH1.

What each result means

C/C Two copies of the version the research linked to Gap junction alpha-1 protein levels (GJA1.9937.7.3). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Gap junction alpha-1 protein levels (GJA1.9937.7.3). That is a smaller link than two copies.
T/T No copy of the version the research linked to Gap junction alpha-1 protein levels (GJA1.9937.7.3). This is the starting point the study compared everyone against.
Source

Questions about rs2019065

What is rs2019065?

rs2019065 is a single position in the genome, in or near the near ITIH1 gene. Published research associates it with gap junction alpha-1 protein levels (gja1.9937.7.3). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2019065 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 rs2019065 come from?

GWAS Catalog, Nature 2018, PMID:29875488. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Gap junction alpha-1 protein levels (GJA1.9937.7.3) (rs2019065). MyGeneLog™. https://www.mygenelog.com/variants/rs2019065

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