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Sensitive

Chronic venous disease

KCNH8 · rs727139

Where this position leads

Condition: Chronic Venous Disease

rs727139 Condition: Chronic Venous Disease Chronic Venous Disease Condition rs727139 rs727139 KCNH8

What the study found

Who was studied 323 German ancestry cases and 4,619 German ancestry controls; replicated in 1,946 German ancestry cases and 3,146 German ancestry controls.

The effect Each copy of the A allele carried 1.37 times the odds of Chronic venous disease (95% confidence interval 1.25-1.52); p = 5 × 10−11.

How common The A allele had a frequency of about 79% in the people studied.

Where it sits Chromosome 3, band 3p24.3 — in an intron of KCNH8.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Chronic venous disease compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Chronic venous disease.
G/G Published research associates this genotype with typical/baseline likelihood of Chronic venous disease — no copies of the reported risk allele.
Source
Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci
Ellinghaus E, Ellinghaus D, Krusche P, Greiner A, Schreiber C, Nikolaus S, Gieger C, Strauch K, Lieb W, Rosenstiel P, Frings N, Fiebig A
and 2 more — show all
Schreiber S, Franke A
Scientific reports · 2017 · PMID 28374850 · open access

Questions about rs727139

What is rs727139?

rs727139 is a single position in the genome, in or near the KCNH8 gene. Published research associates it with chronic venous disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs727139 linked to?

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

Does having rs727139 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 rs727139 come from?

GWAS Catalog, Sci Rep 2017, PMID:28374850. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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