ABCB11 · rs2287621
Where this position leads
Condition: Cholesterol (LDL, HDL and Total)
Strength of the evidence
Its strongest genetic-study result is p = 10−9, with 3 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 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals.
The effect Each copy of the G allele shifted the measure 0.026 higher; p = 4 × 10−9.
Where it sits Chromosome 2, band 2q31.1 — in an intron of ABCB11.
What ClinVar records
Classification
Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-11-10.
ClinVar record 1179774 NM_003742.4(ABCB11):c.1309-165C>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 2026-10-19 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
A 76.9% · G 23.1%
A 76.5% · G 23.5%
A 76.6% · G 23.4%
A 81.1% · G 18.9%
A 80.3% · G 19.7%
A 66.4% · G 33.6%
A 68.7% · G 31.3%
A 66.4% · G 33.6%
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.
rs2287621 is a single position in the genome, in or near the ABCB11 gene. Published research associates it with low density lipoprotein cholesterol levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Cholesterol (LDL, HDL and Total). The research behind each link, and its sources, are set out on that condition page.
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
GWAS Catalog, Nat Genet 2018, PMID:29507422. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Low density lipoprotein cholesterol levels (rs2287621). MyGeneLog™. https://www.mygenelog.com/variants/rs2287621