Standard

Estimated glomerular filtration rate

SLC47A1 · rs2440164

Where this position leads

Condition: Kidney Function

What the study found

Who was studied 206,856 European ancestry individuals, 143,658 East Asian ancestry individuals.

The effect Each copy of the G allele shifted the measure 9.48 z score lower; p = 3 × 10⁻²¹.

How common The G allele had a frequency of about 34% in the people studied.

Where it sits Chromosome 17, band 17p11.2 — inside SLC47A1.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Estimated glomerular filtration rate — no copies of the reported risk allele.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Estimated glomerular filtration rate.

G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Estimated glomerular filtration rate compared to the general population.

Source

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

Graham SE, Nielsen JB, Zawistowski M, Zhou W, Fritsche LG, Gabrielsen ME, Skogholt AH, Surakka I, Hornsby WE, Fermin D, Larach DB, Kheterpal S

and 9 more — show all

Brummett CM, Lee S, Kang HM, Abecasis GR, Romundstad S, Hallan S, Sampson MG, Hveem K, Willer CJ

Nature communications · 2019 · PMID 31015462 · open access

Questions about rs2440164

What is rs2440164?

rs2440164 is a single position in the genome, in or near the SLC47A1 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.

What conditions is rs2440164 linked to?

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

Does having rs2440164 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 rs2440164 come from?

GWAS Catalog, Nat Commun 2019, PMID:31015462. 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.

Estimated glomerular filtration rate (rs2440164). MyGeneLog™. https://www.mygenelog.com/variants/rs2440164

← See all variants