Sequencings

Markers / SLC16A11

rs75493593

Neanderthal: a diabetes risk variant carried into the Americas

GeneSLC16A11
Positionchr17:6,945,087
VersionsG / T
Evidenceestablished

What this position does

A Neanderthal-derived version of a sugar and fat transporter, carried by roughly half of people with Indigenous American ancestry and about one in ten in East Asia, and rare elsewhere. It is one of the clearest cases of archaic DNA shaping modern disease risk unevenly across populations.

What each result means

If you carryWhat it means
No copies of the effect version
GG
Not inherited
Neither copy carries the Neanderthal version. This is the usual result in Europe and Africa.
One copy
GT
Inherited from one parent
One copy, associated with roughly a 20 per cent higher risk of type 2 diabetes.
Two copies
TT
Inherited from both parents
Two copies, with the associated risk raised further. As always, blood sugar is measured with a blood test, and lifestyle moves it far more than this does.

How common each version is

Ancestry groupT (the effect version)
African0.3%
American24.2%
East Asian10.0%
European1.7%
South Asian0.4%

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 groupGGGTTT
African658 / 6612 / 6611 / 661
European487 / 50315 / 5031 / 503
East Asian411 / 50485 / 5048 / 504
South Asian485 / 4894 / 4890 / 489
American200 / 347126 / 34721 / 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

SIGMA Type 2 Diabetes Consortium, Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico, Nature (2014)

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

Where this fits

Common questions

What is rs75493593?

rs75493593 is a position in the SLC16A11 gene on chromosome 17. A Neanderthal-derived version of a sugar and fat transporter, carried by roughly half of people with Indigenous American ancestry and about one in ten in East Asia, and rare elsewhere. It is one of the clearest cases of archaic DNA shaping modern disease risk unevenly across populations.

What does it mean if I have TT at rs75493593?

Inherited from both parents. Two copies, with the associated risk raised further. As always, blood sugar is measured with a blood test, and lifestyle moves it far more than this does.

What does it mean if I have GG at rs75493593?

Not inherited. Neither copy carries the Neanderthal version. This is the usual result in Europe and Africa.

How do I find out my rs75493593 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: Archaic DNA.