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Standard

Height

PLOD2 · rs148051196

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, 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 165,056 East Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0918 higher (95% confidence interval 0.065-0.118); p = 9 × 10−12.

How common The C allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 3, band 3q24 — inside PLOD2.

What ClinVar records

Classification Uncertain significance for Bruck syndrome 2; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-01-12. ClinVar record 343646 NM_182943.3(PLOD2):c.1658A>G (p.Gln553Arg)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

How common each version is

CT
Korean KRGDB
C 0.1% · T 99.9%
Korean Korea4K
C 0.1% · T 99.9%
Korean Korea1K
C 0.3% · T 99.7%
Japanese ToMMo
C 0.9% · T 99.1%
World gnomAD
T 100.0%
World 1000 Genomes
C 0.1% · T 99.9%
World TOPMed
T 100.0%

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

Quoting this page

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Height (rs148051196). MyGeneLog™. https://www.mygenelog.com/variants/rs148051196

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