Standard

Low density lipoprotein cholesterol levels

SMARCA4 · rs73013159

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

3 / 4

Its strongest genetic-study result is p = 10⁻¹⁴⁶, with 3 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 341,875 European ancestry individuals, 6,003 African ancestry individuals, 7,319 South Asian ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.126 lower (95% confidence interval 0.12-0.14); p = 6 × 10⁻¹⁴⁷.

Where it sits Chromosome 19, band 19p13.2 — in an intron of SMARCA4.

How common each version is

GT

Korean Korea4K

G 100.0% · T 0.0%

World gnomAD

G 95.4% · T 4.6%

World 1000 Genomes

G 97.6% · T 2.4%

World TOPMed

G 95.4% · T 4.6%

By ancestry gnomAD

East Asian

G 100.0%

European (non-Finnish)

G 93.5% · T 6.4%

African / African American

G 98.4% · T 1.6%

South Asian

G 98.0% · T 2.0%

Admixed American (Latino)

G 95.0% · T 5.0%

Middle Eastern

G 86.8% · T 13.2%

Finnish

G 94.4% · T 5.6%

Ashkenazi Jewish

G 91.7% · T 8.3%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

G/G No copy of the version the research linked to Low density lipoprotein cholesterol levels. This is the starting point the study compared everyone against.

G/T One copy of the version the research linked to Low density lipoprotein cholesterol levels. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Low density lipoprotein cholesterol levels. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Genetics of 35 blood and urine biomarkers in the UK Biobank

Sinnott-Armstrong N, Tanigawa Y, Amar D, Mars N, Benner C, Aguirre M, Venkataraman GR, Wainberg M, Ollila HM, Kiiskinen T, Havulinna AS, Pirruccello JP

and 11 more — show all

Qian J, Shcherbina A, Rodriguez F, Assimes TL, Agarwala V, Tibshirani R, Hastie T, Ripatti S, Pritchard JK, Daly MJ, Rivas MA

FinnGen

Nature genetics · 2021 · PMID 33462484 · open access

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

Low density lipoprotein cholesterol levels (rs73013159). MyGeneLog™. https://www.mygenelog.com/variants/rs73013159

← See all variants