Sensitive

Systemic lupus erythematosus

GTF2IRD1 · rs530634980

Where this position leads

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻¹⁷, with 1 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 13,377 East Asian ancestry cases, 194,993 East Asian ancestry controls.

The effect Each copy of the T allele carried 2.02 times the odds of Systemic lupus erythematosus (95% confidence interval 1.86-2.17); p = 5 × 10⁻¹⁸.

How common The T allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 7, band 7q11.23 — in an intron of GTF2IRD1.

What each result means

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

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

T/T 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.

Source

Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus

Yin X, Kim K, Suetsugu H, Bang SY, Wen L, Koido M, Ha E, Liu L, Sakamoto Y, Jo S, Leng RX, Otomo N

and 76 more — show all

Laurynenka V, Kwon YC, Sheng Y, Sugano N, Sugano N, Hwang MY, Li W, Mukai M, Yoon K, Cai M, Ishigaki K, Chung WT, Huang H, Takahashi D, Lee SS, Wang M, Karino K, Shim SC, Zheng X, Miyamura T, Kang YM, Ye D, Nakamura J, Suh CH, Tang Y, Motomura G, Park YB, Ding H, Kuroda T, Choe JY, Li C, Niiro H, Park Y, Shen C, Miyamoto T, Ahn GY, Fei W, Takeuchi T, Shin JM, Li K, Kawaguchi Y, Lee YK, Wang Y, Amano K, Park DJ, Yang W, Tada Y, Yamaji K, Shimizu M, Atsumi T, Suzuki A, Sumida T, Okada Y, Matsuda K, Matsuo K, Kochi Y, Kottyan LC, Weirauch MT, Parameswaran S, Eswar S, Salim H, Chen X, Yamamoto K, Harley JB, Ohmura K, Kim TH, Yang S, Yamamoto T, Kim BJ, Shen N, Ikegawa S, Lee HS, Zhang X, Terao C, Cui Y, Bae SC

Japanese Research Committee on Idiopathic Osteonecrosis of the Femoral Head

Annals of the rheumatic diseases · 2021 · PMID 33272962 · open access

Questions about rs530634980

What is rs530634980?

rs530634980 is a single position in the genome, in or near the GTF2IRD1 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 rs530634980 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 rs530634980 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 rs530634980 come from?

GWAS Catalog, Ann Rheum Dis 2020, PMID:33272962. 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 (rs530634980). MyGeneLog™. https://www.mygenelog.com/variants/rs530634980

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