Markers / Gene
SORT1
One position in this gene is readable from a home DNA test.
SORT1, the LDL variant whose mechanism was actually solved
rs12740374 · chr1:109,817,590 · G/T · evidence: established
Most common variants are found by statistics and their mechanism stays unknown. This one was chased all the way down: it creates a binding site for a liver transcription factor, changing how much SORT1 the liver makes, which changes how much LDL cholesterol the liver clears.
| If you carry | What it means |
|---|---|
| No copies | You have the higher-LDL version on both copies |
| One copy | You carry one lower-LDL copy |
| Two copies | You have the lower-LDL version on both copies |
| Ancestry group | T (the effect version) | |
|---|---|---|
| African | 24.7% | |
| American | 20.5% | |
| East Asian | 4.3% | |
| European | 21.3% | |
| South Asian | 25.9% |
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.
Where this gene fits
If you have taken a home DNA test, these positions are already in your file.
Read my file