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Standard

Lactosylceramides (FA24:1) (Model 2)

ABCA7 · rs3764645

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−50, with 6 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 7,126 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.247 lower; p = 2 × 10−50.

Where it sits Chromosome 19, band 19p13.3 — a missense change in ABCA7.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2019-08-22. ClinVar record 1237748 NM_019112.4(ABCA7):c.563A>G (p.Glu188Gly)

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 2026-11-09 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 56.5% · G 43.5%
Korean Korea4K
A 56.3% · G 43.7%
Korean Korea1K
A 56.8% · G 43.2%
Japanese ToMMo
A 59.0% · G 41.0%
Vietnamese
A 55.7% · G 44.3%
World gnomAD
A 58.2% · G 41.8%
World 1000 Genomes
A 60.0% · G 40.0%
World TOPMed
A 58.3% · G 41.7%

By ancestry gnomAD

East Asian
A 56.2% · G 43.8%
European (non-Finnish)
A 52.5% · G 47.5%
African / African American
A 77.8% · G 22.2%
South Asian
A 50.5% · G 49.5%
Admixed American (Latino)
A 41.7% · G 58.3%
Middle Eastern
A 47.6% · G 52.4%
Finnish
A 48.8% · G 51.2%
Ashkenazi Jewish
A 49.9% · G 50.1%

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

What each result means

A/A Two copies of the version the research linked to Lactosylceramides (FA24:1) (Model 2). 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 Lactosylceramides (FA24:1) (Model 2). That is a smaller link than two copies.
G/G No copy of the version the research linked to Lactosylceramides (FA24:1) (Model 2). This is the starting point the study compared everyone against.
Source

Quoting this page

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Lactosylceramides (FA24:1) (Model 2) (rs3764645). MyGeneLog™. https://www.mygenelog.com/variants/rs3764645

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