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Standard

Body mass index (MTAG)

MACF1 · rs112646560

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−15, 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 694,649 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0202 higher (95% confidence interval 0.015-0.025); p = 1 × 10−15.

Where it sits Chromosome 1, band 1p34.3 — in an intron of MACF1.

How common each version is

CT
Korean KRGDB
C 83.0% · T 17.0%
Korean Korea4K
C 84.8% · T 15.2%
Korean Korea1K
C 84.8% · T 15.2%
Japanese ToMMo
C 83.3% · T 16.7%
Vietnamese
C 81.3% · T 18.7%
World gnomAD
C 83.2% · T 16.8%
World 1000 Genomes
C 87.6% · T 12.4%
World TOPMed
C 83.4% · T 16.6%

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

C/C No copy of the version the research linked to Body mass index (MTAG). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Body mass index (MTAG). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Body mass index (MTAG). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Quoting this page

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Body mass index (MTAG) (rs112646560). MyGeneLog™. https://www.mygenelog.com/variants/rs112646560

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