TNFRSF1A · rs1800693
Where this position leads
Condition: Primary Biliary Cholangitis
What the study found
Who was studied 1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al); replicated in 620 European ancestry cases, 2,514 European ancestry controls.
The effect Each copy of the C allele carried 1.22 times the odds of Primary biliary cholangitis (95% confidence interval 1.14-1.30); p = 2 × 10−9.
How common The C allele had a frequency of about 40% in the people studied.
Where it sits Chromosome 12, band 12p13.31 — in an intron of TNFRSF1A.
What ClinVar records
Classification
Benign/Likely benign for Multiple sclerosis, susceptibility to, 5, TNF receptor-associated periodic fever syndrome (TRAPS), Susceptibility to severe coronavirus disease (COVID-19), Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR6, Autoinflammatory syndrome and 2 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 18 submitters), last evaluated 2026-02-04.
ClinVar record 37038 NM_001065.4(TNFRSF1A):c.625+10A>G
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.
What people read about alongside this
Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.
rs1800693 is a single position in the genome, in or near the TNFRSF1A gene. Published research associates it with primary biliary cholangitis. 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 Primary Biliary Cholangitis. The research behind each link, and its sources, are set out on that condition page.
Subjects that appear in the title or abstract of the same papers as this rsID include gut and food intolerance (1 papers), heart and circulation (1 papers), liver (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.
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 2011, PMID:21399635. 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.
Primary biliary cholangitis (rs1800693). MyGeneLog™. https://www.mygenelog.com/variants/rs1800693