Sensitive

Systemic lupus erythematosus

CDKN1B · rs34330

Where this position leads

What the study found

Who was studied 1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls; replicated in 3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls.

The effect Each copy of the C allele carried 1.19 times the odds of Systemic lupus erythematosus (95% confidence interval -); p = 5 × 10⁻¹².

How common The C allele had a frequency of about 52% in the people studied.

Where it sits Chromosome 12, band 12p13.1 — in the 5′ untranslated region of CDKN1B.

What ClinVar records

Classification Benign for Multiple endocrine neoplasia type 4; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 8 submitters), last evaluated 2026-02-02. ClinVar record 307658 NM_004064.5(CDKN1B):c.-79T>C

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 each result means

C/C Two copies of the version the research linked to Systemic lupus erythematosus. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to Systemic lupus erythematosus. That is a smaller link than two copies.

T/T No copy of the version the research linked to Systemic lupus erythematosus. This is the starting point the study compared everyone against.

Source

Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians

Yang W, Tang H, Zhang Y, Tang X, Zhang J, Sun L, Yang J, Cui Y, Zhang L, Hirankarn N, Cheng H, Pan HF

and 66 more — show all

Pan HF, Gao J, Lee TL, Sheng Y, Lau CS, Li Y, Chan TM, Yin X, Ying D, Lu Q, Leung AM, Zuo X, Chen X, Tong KL, Zhou F, Diao Q, Tse NK, Xie H, Mok CC, Hao F, Wong SN, Shi B, Lee KW, Hui Y, Ho MH, Liang B, Lee PP, Cui H, Guo Q, Chung BH, Pu X, Liu Q, Zhang X, Zhang C, Chong CY, Fang H, Wong RW, Sun Y, Mok MY, Li XP, Avihingsanon Y, Zhai Z, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Gao F, Shotelersuk V, Kang X, Ying SK, Zhang L, Wong WH, Zhu D, Fung SK, Zeng F, Lai WM, Wong CM, Ng IO, Garcia-Barceló MM, Cherny SS, Shen N, Tam PK, Sham PC, Ye DQ, Yang S, Zhang X, Lau YL

American journal of human genetics · 2013 · PMID 23273568

Questions about rs34330

What is rs34330?

rs34330 is a single position in the genome, in or near the CDKN1B gene. Published research associates it with systemic lupus erythematosus. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs34330 linked to?

On MyGeneLog this position is linked to Systemic Lupus Erythematosus. The research behind each link, and its sources, are set out on that condition page.

Does having rs34330 mean I will get this?

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.

Where does the information about rs34330 come from?

GWAS Catalog, Am J Hum Genet 2012, PMID:23273568. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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.

Systemic lupus erythematosus (rs34330). MyGeneLog™. https://www.mygenelog.com/variants/rs34330

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