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Standard

TIMP4 protein levels

near PPARG · rs1152003

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−36, 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 47,745 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0702 lower (95% confidence interval 0.058-0.082); p = 9 × 10−37.

How common The C allele had a frequency of about 67% in the people studied.

Where it sits Chromosome 3, band 3p25.2 — between genes, 1 kb from PPARG.

How common each version is

CG
Korean KRGDB
C 44.3% · G 55.7%
Korean Korea4K
C 44.5% · G 55.5%
Korean Korea1K
C 47.3% · G 52.7%
Japanese ToMMo
C 40.3% · G 59.7%
Vietnamese
C 47.7% · G 52.3%
World gnomAD
C 56.1% · G 43.9%
World 1000 Genomes
C 48.0% · G 52.0%
World TOPMed
C 53.6% · G 46.4%

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 Two copies of the version the research linked to TIMP4 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/G One copy of the version the research linked to TIMP4 protein levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to TIMP4 protein levels. This is the starting point the study compared everyone against.
Source

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TIMP4 protein levels (rs1152003). MyGeneLog™. https://www.mygenelog.com/variants/rs1152003

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