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LDLR · rs117423069
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
Its strongest genetic-study result is p = 10−15, with 11 associations in the GWAS Catalog.
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 98,316 European ancestry individuals.
The effect Each copy of the T allele shifted the measure 0.00296 higher (95% confidence interval 0.0021-0.0039); p = 1 × 10−10.
How common The T allele had a frequency of about 13% in the people studied.
Where it sits Chromosome 19, band 19p13.2 — in an intron of LDLR.
How common each version is
CT
C 99.7% · T 0.3%
C 99.8% · T 0.2%
C 99.8% · T 0.2%
C 100.0% · T 0.1%
C 91.3% · T 8.7%
C 94.8% · T 5.2%
C 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.
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Cholesteryl Esters in Medium HDL (rs117423069). MyGeneLog™. https://www.mygenelog.com/variants/rs117423069