What Does APOL1 Mean in My 23andMe Raw Data?
APOL1 in your 23andMe raw data means markers in the APOL1 gene tied to kidney disease risk. Two risk alleles is the high-risk genotype, not a diagnosis.
APOL1 in your 23andMe raw data refers to three specific markers in the APOL1 gene that have been tied to kidney disease risk. Most people have no risk versions. If you have two APOL1 risk alleles, you have what researchers call the high-risk genotype, which raises the odds of several kidney diseases, but it is not a diagnosis and many people with it never develop kidney problems.
What does APOL1 mean in my 23andMe raw data?
Your raw file will not have one line called APOL1. You need to search for the markers behind the two common risk versions, called G1 and G2.
- G1 is made of two markers: rs73885319 and rs60910145. They usually travel together and count as one G1 allele.
- G2 is one marker: rs71785313, a small deletion.
- A high-risk genotype means you inherited two risk alleles total: G1/G1, G1/G2 or G2/G2.
The raw data tells you which bases or variants are present, not whether they are on the same chromosome. That matters. If you are heterozygous at both G1 markers, you could carry one G1 allele and one normal allele, but raw data alone does not always sort that out. Do not count each G1 marker as a separate allele. The two G1 variants are one allele.
One APOL1 risk allele is a carrier finding. Two risk alleles is the high-risk genotype. Neither is a kidney disease diagnosis.
| Raw result | Meaning | Kidney disease implication |
|---|---|---|
| 0 risk alleles | No G1 or G2 risk variant | No added APOL1 kidney risk |
| 1 risk allele | Carrier of G1 or G2 | Not the high-risk APOL1 genotype; risk is not zero but much less clear |
| 2 risk alleles | G1/G1, G1/G2 or G2/G2 | High-risk APOL1 genotype; raised odds, still not a diagnosis |
Scroll the table sideways for the rest →
Interpretation depends on the two G1 markers and the G2 deletion marker. Phase can matter if you are heterozygous at both G1 sites.
Why APOL1 raises kidney disease odds
APOL1 makes a protein that is part of the body's defence against African trypanosomes, the parasites behind sleeping sickness. The risk versions evolved because they kill these parasites more effectively.
The trade-off happens in kidney cells called podocytes. APOL1 risk proteins can damage podocytes under stress. They can form channels, disturb lysosomes and mitochondria, and push the cell toward injury or death. Podocytes help hold the kidney filter together, so damage there can leak protein and scar the filter.
This is why the risk is called a two-hit process. The APOL1 high-risk genotype is one hit. A second hit can be HIV, lupus, a severe infection, or long-standing high blood pressure. Without that second hit, many people with two risk alleles still keep normal kidney function.
What a high-risk genotype does and does not mean
If you have two APOL1 risk alleles:
- Your odds of focal segmental glomerulosclerosis are several times higher than someone without them.
- Your odds of kidney failure attributed to hypertension are also higher.
- With HIV infection, APOL1 high-risk strongly raises the chance of HIV-associated nephropathy.
- The APOL1 risk variants are most common in people of West African ancestry. About 13% of African Americans carry two risk variants.
That does not mean you have kidney disease now. It also does not mean you will definitely get it. Many people with the high-risk genotype never develop kidney problems.
One risk allele is not the high-risk genotype. It is a carrier finding. The evidence for increased kidney risk with one allele is thinner and more argued about. If you are considering living kidney donation, a two-allele result is treated more seriously than a one-allele result, but this is exactly the kind of thing to take to a kidney specialist rather than a raw DNA line.
What the HealthOS DNA tool does and does not show for APOL1
The free DNA report at https://healthosx.com/dna reads a raw 23andMe, AncestryDNA, MyHeritage or whole-genome file in the browser. APOL1 is one of the genes it checks. It will report the APOL1 finding, but it does not diagnose kidney disease, estimate a lifetime risk score, or measure your kidney function. A raw DNA report is not a creatinine, eGFR or urine protein test.
If your raw file is missing any of the APOL1 markers, the report cannot fill in the gap. A whole-genome VCF without rsIDs gets ancestry only, because the trait report needs named markers.
What to do with an APOL1 result
Ask whether you actually have two risk alleles. If yes, it is worth mentioning to a clinician if you have high blood pressure, diabetes, lupus, HIV, or a family history of kidney failure. If you have one risk allele, do not overinterpret it. If the marker is missing from your file, you cannot rule APOL1 risk in or out.
The download steps for 23andMe, on the page itself.
The short version: what is worth acting on, first.
The gene is only one part of kidney risk. Blood pressure control, blood sugar control, weight, smoking, medications and routine kidney function tests all matter more right now than a high-risk APOL1 genotype. When you want to see your own APOL1 raw data in context, run a free HealthOS DNA report at https://healthosx.com/dna.
New to raw DNA files? Start with the full guide: How to Download & Analyze Your 23andMe Raw Data Free
Written by
HealthOS Research