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Standard

Benign neoplasm of adrenal gland (PheCode 227.1)

TCF4 · rs1053076916

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 1,058 African American or Afro-Caribbean cases, 120,172 African American or Afro-Caribbean controls, 2,605 European ancestry cases, 446,602 European ancestry controls, 245 Hispanic or Latin American cases, 59,501 Hispanic or Latin American controls.

The effect Each copy of the C allele shifted the measure 2.51 lower (95% confidence interval 2.47-2.55); p = 5 × 10−12.

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

Where it sits Chromosome 18, band 18q21.2 — in an intron of TCF4.

How common each version is

CT
World gnomAD
C 100.0%
World TOPMed
C 100.0% · T 0.0%

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. No Korean figure for this position yet.

What each result means

C/C Two copies of the version the research linked to Benign neoplasm of adrenal gland (PheCode 227.1). 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 Benign neoplasm of adrenal gland (PheCode 227.1). That is a smaller link than two copies.
T/T No copy of the version the research linked to Benign neoplasm of adrenal gland (PheCode 227.1). This is the starting point the study compared everyone against.
Source

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Benign neoplasm of adrenal gland (PheCode 227.1) (rs1053076916). MyGeneLog™. https://www.mygenelog.com/variants/rs1053076916

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