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Standard

Total cholesterol levels

SLC33A1 · rs76440173

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, 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 1,320,016 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.086 higher (95% confidence interval 0.065-0.107); p = 3 × 10−11.

How common The T allele had a frequency of about 0% in the people studied.

Where it sits Chromosome 3, band 3q25.31 — a missense change in SLC33A1.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Spastic paraplegia, Hereditary spastic paraplegia 42, Hereditary spastic paraplegia; criteria provided, conflicting classifications (1 of 4 stars, 9 submitters), last evaluated 2026-01-26. ClinVar record 343874 NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)

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

CT
World gnomAD
C 99.7% · T 0.3%
World 1000 Genomes
C 99.9% · T 0.1%
World TOPMed
C 99.8% · T 0.2%

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. No Korean figure for this position yet.

What each result means

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

Quoting this page

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Total cholesterol levels (rs76440173). MyGeneLog™. https://www.mygenelog.com/variants/rs76440173

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