ABCB4 · rs58238559
Where this position leads
Condition: Intrahepatic Cholestasis of Pregnancy
What the study found
Who was studied 4,738 European ancestry female cases, 436,834 European ancestry female controls.
The effect Each copy of the T allele carried 0.49 times the odds of Intrahepatic cholestasis of pregnancy (95% confidence interval 0.42-0.58); p = 1 × 10−17.
How common The T allele had a frequency of about 3% in the people studied.
Where it sits Chromosome 7, band 7q21.12 — a missense change in ABCB4.
What ClinVar records
Classification
Benign/Likely benign for Low phospholipid associated cholelithiasis, Cholestasis, intrahepatic, of pregnancy, 3, Progressive familial intrahepatic cholestasis type 3, Familial intrahepatic cholestasis; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 14 submitters), last evaluated 2026-04-14.
ClinVar record 13691 NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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.
rs58238559 is a single position in the genome, in or near the ABCB4 gene. Published research associates it with intrahepatic cholestasis of pregnancy. 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 Intrahepatic Cholestasis of Pregnancy. 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, Nature communications 2026, PMID:42178310. 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.
Intrahepatic cholestasis of pregnancy (rs58238559). MyGeneLog™. https://www.mygenelog.com/variants/rs58238559