Standard

Hypocalcemia (PheCode 275.51)

EML6 · rs535531538

Where this position leads

Condition: Hypocalcemia

rs535531538 Condition: Hypocalcemia Hypocalcemia Condition rs535531538 rs535531538 EML6

What the study found

Who was studied 813 African American or Afro-Caribbean cases, 119,773 African American or Afro-Caribbean controls, 2,037 European ancestry cases, 445,242 European ancestry controls, 259 Hispanic or Latin American cases, 59,193 Hispanic or Latin American controls.

The effect Each copy of the C allele shifted the measure 3.18 lower (95% confidence interval 3.15-3.2); p = 4 × 10−11.

How common The C allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 2, band 2p16.1 — in an intron of EML6.

What each result means

C/C Two copies of the version the research linked to Hypocalcemia (PheCode 275.51). 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 Hypocalcemia (PheCode 275.51). That is a smaller link than two copies.
T/T No copy of the version the research linked to Hypocalcemia (PheCode 275.51). This is the starting point the study compared everyone against.
Source

Questions about rs535531538

What is rs535531538?

rs535531538 is a single position in the genome, in or near the EML6 gene. Published research associates it with hypocalcemia (phecode 275.51). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs535531538 linked to?

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

Does having rs535531538 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 rs535531538 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

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.

Hypocalcemia (PheCode 275.51) (rs535531538). MyGeneLog™. https://www.mygenelog.com/variants/rs535531538

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