Standard

Thyrotoxic periodic paralysis

KCNJ2 · rs312743

What the study found

Who was studied 306 Chinese ancestry male cases, 3,516 Chinese ancestry controls.

The effect The reported allele is T; the catalogue records no effect size ; p = 2 × 10−22.

How common The T allele had a frequency of about 50% in the people studied.

Where it sits Chromosome 17, band 17q24.3 — between genes, 80.7 kb from CALM2P1.

What each result means

C/C No copy of the version the research linked to Thyrotoxic periodic paralysis. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Thyrotoxic periodic paralysis. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Thyrotoxic periodic paralysis. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs312743

What is rs312743?

rs312743 is a single position in the genome, in or near the KCNJ2 gene. Published research associates it with thyrotoxic periodic paralysis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs312743 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 rs312743 come from?

GWAS Catalog, European journal of endocrinology 2020, PMID:33105104. 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.

Thyrotoxic periodic paralysis (rs312743). MyGeneLog™. https://www.mygenelog.com/variants/rs312743

← See all variants