Standard

Body mass index

CACNA1D · rs3774573

Where this position leads

Conditions: Waist-to-Hip Ratio (Body Fat Distribution), Obesity and Body Weight

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻¹⁴, 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 434,794 European ancestry female individuals.

The effect Each copy of the T allele shifted the measure 0.0151 higher (95% confidence interval 0.011-0.019); p = 3 × 10⁻¹⁴.

How common The T allele had a frequency of about 74% in the people studied.

Where it sits Chromosome 3, band 3p21.1 — in an intron of CACNA1D.

How common each version is

CT

Korean KRGDB

C 19.4% · T 80.7%

Korean Korea4K

C 17.4% · T 82.6%

Korean Korea1K

C 16.4% · T 83.6%

Japanese ToMMo

C 19.3% · T 80.7%

Vietnamese

C 19.6% · T 80.4%

World gnomAD

C 26.6% · T 73.4%

World 1000 Genomes

C 23.5% · T 76.5%

World TOPMed

C 27.6% · T 72.4%

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 No copy of the version the research linked to Body mass index. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Body mass index. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Body mass index. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry

Pulit SL, Stoneman C, Morris AP, Wood AR, Glastonbury CA, Tyrrell J, Yengo L, Ferreira T, Marouli E, Ji Y, Yang J, Jones S

and 10 more — show all

Beaumont R, Croteau-Chonka DC, Winkler TW, Hattersley AT, Loos RJF, Hirschhorn JN, Visscher PM, Frayling TM, Yaghootkar H, Lindgren CM

GIANT Consortium

Human molecular genetics · 2019 · PMID 30239722 · open access

Questions about rs3774573

What is rs3774573?

rs3774573 is a single position in the genome, in or near the CACNA1D gene. Published research associates it with body mass index. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs3774573 linked to?

On MyGeneLog this position is linked to Waist-to-Hip Ratio (Body Fat Distribution), Obesity and Body Weight. The research behind each link, and its sources, are set out on that condition page.

Does having rs3774573 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs3774573 come from?

GWAS Catalog, Hum Mol Genet 2018, PMID:30239722. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Body mass index (rs3774573). MyGeneLog™. https://www.mygenelog.com/variants/rs3774573

← See all variants