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Standard

Kidney function decline traits

UMOD · rs12917707

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−17, with 13 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 up to 45,530 European ancestry individuals; replicated in up to 18,028 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.14 lower; p = 2 × 10−17.

How common The T allele had a frequency of about 18% in the people studied.

Where it sits Chromosome 16, band 16p12.3 — in the 5′ untranslated region of UMOD.

How common each version is

GT

By ancestry gnomAD

East Asian
G 98.9% · T 1.1%
European (non-Finnish)
G 82.0% · T 18.0%
African / African American
G 95.3% · T 4.7%
South Asian
G 86.0% · T 14.0%
Admixed American (Latino)
G 83.4% · T 16.6%
Middle Eastern
G 82.0% · T 18.0%
Finnish
G 77.3% · T 22.7%
Ashkenazi Jewish
G 86.3% · T 13.7%

The share of all copies of this position that are each version. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

G/G No copy of the version the research linked to Kidney function decline traits. This is the starting point the study compared everyone against.
G/T One copy of the version the research linked to Kidney function decline traits. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Kidney function decline traits. That is the strongest link of the three results. A link in a study is not a diagnosis.
DNA databases also record a third, rare version at this position, carried on fewer than one in a hundred copies of the DNA. The three results above cover the two common versions only.
Source

Quoting this page

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Kidney function decline traits (rs12917707). MyGeneLog™. https://www.mygenelog.com/variants/rs12917707

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