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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 70,762 European ancestry diabetic individuals, 152,624 European ancestry non-diabetic individuals, 20,967 African American diabetic individuals, 36,369 African American non-diabetic individuals; replicated in 567,401 European ancestry individuals, 165,726 East Asian ancestry individuals, 13,359 South Asian ancestry individuals, 13,842 African American ancestry individuals, 4,961 Hispanic ancestry individuals.
The effect
Each copy of the T allele shifted the measure 0.0024 lower (95% confidence interval 0.0016-0.0032); p = 5 × 10−12.
How common The T allele had a frequency of about 47% in the people studied.
Where it sits Chromosome 18, band 18p11.31 — in an intron of EPB41L3.
What each result means
C/CNo copy of the version the research linked to Estimated glomerular filtration rate. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Estimated glomerular filtration rate. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Estimated glomerular filtration rate. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature communications · 2019 · PMID 31451708 · open access
Questions about rs1719983
What is rs1719983?
rs1719983 is a single position in the genome, in or near the EPB41L3 gene. Published research associates it with estimated glomerular filtration rate. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs1719983 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 rs1719983 come from?
GWAS Catalog, Nature communications 2019, PMID:31451708. 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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