Sensitive

Autoimmune traits (pleiotropy)

PTPN22 · rs1217403

Where this position leads

Condition: Celiac Disease

rs1217403 Condition: Celiac Disease Celiac Disease Condition rs1217403 rs1217403 PTPN22

What the study found

Who was studied 11,489 European ancestry cases with celiac disease, 15,523 European ancestry cases with rheumatoid arthritis, 3,477 European ancestry cases with systemic sclerosis, 6,670 European ancestry cases with type 1 diabetes, 22,308 European ancestry controls.

The effect The reported allele is C; the catalogue records no effect size ; p = 5 × 10−11.

Where it sits Chromosome 1, band 1p13.2 — in an intron of PTPN22.

What each result means

C/C Two copies of the version the research linked to Autoimmune traits (pleiotropy). 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 Autoimmune traits (pleiotropy). That is a smaller link than two copies.
T/T No copy of the version the research linked to Autoimmune traits (pleiotropy). This is the starting point the study compared everyone against.
Source

Questions about rs1217403

What is rs1217403?

rs1217403 is a single position in the genome, in or near the PTPN22 gene. Published research associates it with autoimmune traits (pleiotropy). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1217403 linked to?

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

Does having rs1217403 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 rs1217403 come from?

GWAS Catalog, Genome medicine 2018, PMID:30572963. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Autoimmune traits (pleiotropy) (rs1217403). MyGeneLog™. https://www.mygenelog.com/variants/rs1217403

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