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Standard

High density lipoprotein cholesterol levels

SLC19A3 · rs11694828

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−14, with 1 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 1,320,016 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0146 higher (95% confidence interval 0.012-0.017); p = 1 × 10−14.

How common The A allele had a frequency of about 45% in the people studied.

Where it sits Chromosome 2, band 2q36.3 — in an intron of SLC19A3.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2024-07-15. ClinVar record 3255275 NM_025243.4(SLC19A3):c.150+1229C>T

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 2026-11-01 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

AG
Korean KRGDB
A 0.1% · G 99.9%
Korean Korea4K
A 0.1% · G 99.9%
Korean Korea1K
A 0.1% · G 99.9%
Japanese ToMMo
G 100.0%
Vietnamese
A 0.5% · G 99.5%
World gnomAD
A 36.7% · G 63.3%
World 1000 Genomes
A 24.4% · G 75.6%
World TOPMed
A 34.9% · G 65.1%

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/A Two copies of the version the research linked to High density lipoprotein cholesterol levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to High density lipoprotein cholesterol levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to High density lipoprotein cholesterol levels. This is the starting point the study compared everyone against.
Source

Quoting this page

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High density lipoprotein cholesterol levels (rs11694828). MyGeneLog™. https://www.mygenelog.com/variants/rs11694828

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