Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license
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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
Strength of the evidence
1 / 4
Its strongest genetic-study result is p = 10−12, with 8 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 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals; replicated in 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men.
The effect
Each copy of the A allele shifted the measure 0.031 cm higher (95% confidence interval 0.022-0.04); p = 1 × 10−12.
How common The A allele had a frequency of about 22% in the people studied.
Where it sits Chromosome 5, band 5q35.3 — in the 3′ untranslated region of NSD1.
How common each version is
AG
KoreanKRGDB
A 46.6% · G 53.4%
KoreanKorea4K
A 47.0% · G 53.0%
KoreanKorea1K
A 48.7% · G 51.3%
Japanese ToMMo
A 46.4% · G 53.6%
Vietnamese
A 40.3% · G 59.7%
World gnomAD
A 18.5% · G 81.5%
World 1000 Genomes
A 22.9% · G 77.1%
World TOPMed
A 18.6% · G 81.5%
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/ATwo copies of the version the research linked to Waist circumference adjusted for body mass index. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Waist circumference adjusted for body mass index. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Waist circumference adjusted for body mass index. This is the starting point the study compared everyone against.
PLoS genetics · 2017 · PMID 28448500 · open access
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Quoting this page
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Waist circumference adjusted for body mass index (rs3088050). MyGeneLog™. https://www.mygenelog.com/variants/rs3088050