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Standard

Physical function (baseline)

near PTCH1 · rs34592343

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−9, 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 405,979 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0103 lower (95% confidence interval 0.007-0.0136); p = 9 × 10−10.

How common The C allele had a frequency of about 89% in the people studied.

Where it sits Chromosome 9, band 9q22.32 — between genes, 49.1 kb from PTCH1.

How common each version is

CT
Korean KRGDB
C 92.5% · T 7.5%
Korean Korea4K
C 92.8% · T 7.2%
Korean Korea1K
C 93.6% · T 6.4%
Japanese ToMMo
C 94.3% · T 5.7%
Vietnamese
C 90.2% · T 9.8%
World gnomAD
C 88.7% · T 11.3%
World 1000 Genomes
C 86.7% · T 13.3%
World TOPMed
C 88.6% · T 11.3%

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 Physical function (baseline). 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 Physical function (baseline). That is a smaller link than two copies.
T/T No copy of the version the research linked to Physical function (baseline). This is the starting point the study compared everyone against.
Source

Quoting this page

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Physical function (baseline) (rs34592343). MyGeneLog™. https://www.mygenelog.com/variants/rs34592343

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