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Standard

Uterine fibroids

SUFU · rs145635512

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−10, with 2 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 53,711 European ancestry female cases, 380,441 European ancestry female controls, 14,905 East Asian ancestry female cases, 69,609 East Asian ancestry female controls, 14,905 Central Asian ancestry female cases, 69,609 Central Asian ancestry female controls, 14,905 South Asian ancestry female cases, 69,609 South Asian ancestry female controls, 5,678 African ancestry female cases, 15,760 African ancestry female controls.

The effect Each copy of the A allele shifted the measure 0.199 higher (95% confidence interval 0.14-0.26); p = 4 × 10−11.

Where it sits Chromosome 10, band 10q24.32 — in an intron of SUFU.

How common each version is

AG
Korean KRGDB
A 0.3% · G 99.7%
Korean Korea4K
A 0.3% · G 99.7%
Korean Korea1K
A 0.4% · G 99.6%
Japanese ToMMo
A 0.1% · G 99.9%
World gnomAD
A 0.5% · G 99.5%
World 1000 Genomes
A 0.4% · G 99.6%
World TOPMed
A 0.5% · G 99.5%

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.

What each result means

A/A Two copies of the version the research linked to Uterine fibroids. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Uterine fibroids. That is a smaller link than two copies.
G/G No copy of the version the research linked to Uterine fibroids. This is the starting point the study compared everyone against.
Source

Quoting this page

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Uterine fibroids (rs145635512). MyGeneLog™. https://www.mygenelog.com/variants/rs145635512

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