Sequencings

Markers / CDKAL1

rs7756992

CDKAL1 and how much insulin you release

GeneCDKAL1
Positionchr6:20,679,709
VersionsA / G
Evidenceestablished

What this position does

One of the first type 2 diabetes variants found, and one of the few that replicates in every population tested. It acts on how much insulin the pancreas puts out rather than on how well the body responds to it.

Pancreas. Shaped by insulin output under a changing food supply. This is one of the variants that differs sharply between human populations, because something in the environment made one version worth having.

Insulin, and a food supply that changed

How much insulin the pancreas puts out, and when. These variants differ between populations and were mapped through type 2 diabetes, a disease that was rare before the food supply changed.

What changed: Industry, roughly the last two centuries. Indoor work, heated buildings, refined food, cheap salt and sugar, tobacco at scale, and a collapse in infectious disease. This is where most of the deals in your genome came undone.

Why it spread: nobody knows. The frequency difference between populations is real and measured. What the variant was worth having for is not known, and any site that tells you is guessing.

Spiral Staircase, chapter 13: The Thrifty Body Spiral Staircase is written by the same author as this site.

What each result means

If you carryWhat it means
No copies of the effect version
AA
You have the lower-risk version on both copies
Associated with slightly higher insulin output.
One copy
AG
You carry one higher-risk copy
Associated with a modestly raised risk of type 2 diabetes.
Two copies
GG
You have the higher-risk version on both copies
Associated with roughly 1.2 times the background risk and slightly lower insulin output. Small, and dwarfed by weight and activity.

How common each version is

Ancestry groupG (the effect version)
African63.3%
American30.0%
East Asian47.2%
European28.1%
South Asian26.9%

1000 Genomes Project phase 3, via Ensembl, retrieved 2026-09-23. These groupings are coarse and flatten a great deal of internal diversity, particularly within Africa. A variant being common somewhere tells you where a piece of your ancestry probably comes from, and nothing else.

How many people carry each result

Ancestry groupAAAGGG
African88 / 661309 / 661264 / 661
European270 / 503183 / 50350 / 503
East Asian138 / 504256 / 504110 / 504
South Asian260 / 489195 / 48934 / 489
American164 / 347158 / 34725 / 347

Counts of people, not modelled frequencies: every one of the 2,504 individuals sequenced by the 1000 Genomes Project phase 3, tallied by the genotype they carry. Deriving these from allele frequencies instead would assume random mating inside each group and undercount the homozygotes.

How to find out which you have

If you have taken a test with 23andMe, AncestryDNA, MyHeritage, Family Tree DNA, TellMeGen or Living DNA, this position is very likely already in the raw data file they gave you. You do not need another test.

One thing to watch if you look it up by hand: testing companies report some positions from one DNA strand and some from the other, and the file does not say which. Read the letters as they appear and you will get the opposite of the truth for some positions. Sequencings resolves that automatically.

Source

Steinthorsdottir et al., A variant in CDKAL1 influences insulin response and risk of type 2 diabetes, Nature Genetics (2007)

Coordinates and allele pair verified against Ensembl GRCh37. Direction of effect verified against VEP protein consequences or 1000 Genomes population frequency. Category: Population adaptation.

Where this fits

Common questions

What is rs7756992?

rs7756992 is a position in the CDKAL1 gene on chromosome 6. One of the first type 2 diabetes variants found, and one of the few that replicates in every population tested. It acts on how much insulin the pancreas puts out rather than on how well the body responds to it.

What does it mean if I have GG at rs7756992?

You have the higher-risk version on both copies. Associated with roughly 1.2 times the background risk and slightly lower insulin output. Small, and dwarfed by weight and activity.

What does it mean if I have AA at rs7756992?

You have the lower-risk version on both copies. Associated with slightly higher insulin output.

How do I find out my rs7756992 genotype?

If you have taken a home DNA test, this position is very likely in the raw data file you were given. Sequencings reads that file in your browser without uploading it, and resolves which DNA strand each position was reported from, which is the step most manual lookups get wrong.

This is reference information, not medical advice, and not a diagnosis. See the medical disclaimer. Category: Population adaptation.