Most of what this catalogue tracks is invisible to natural selection — an effect too small, or arriving too late in life, to move the odds of surviving or reproducing. A handful of variants are the exception: population geneticists have measured the direct fingerprint of selection acting on them within the last few thousand years, in some cases strong enough to push a single allele from rare to near-fixed.
Why this topic Ancient DNA sequencing has gone from a handful of skeletons a decade ago to thousands today, and new statistical methods can now track an allele's frequency rising or falling generation by generation instead of only comparing populations as they exist now. The loci it keeps returning to are largely the same six or seven names population genetics has pointed to for twenty years.
Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.
These six are not co-mentions. Each is among the most thoroughly confirmed targets of positive selection in the human genome, established by a dedicated population-genetics study distinct from the paper that first described the variant's effect: LCT and lactase persistence (Bersaglieri et al. 2004), ALDH2 and the alcohol-flush reaction (Oota et al. 2004), EDAR and hair and sweat-gland variation (Kamberov et al. 2013), SLC45A2 and skin pigmentation (Norton et al. 2007), G6PD deficiency, which cuts the risk of severe malaria by 46-58% (Ruwende et al. 1995), and the Duffy blood group, whose null allele shows the largest population-frequency difference ever measured at a single human locus and confers complete resistance to one form of malaria (Hamblin & Di Rienzo 2000).
MCM6 / LCT
Lactose tolerance
ALDH2
Alcohol flush reaction
EDAR
Hair thickness
SLC45A2
Skin pigmentation
G6PD
G6PD deficiency (G6PD A-)
DARC / ACKR1
Duffy blood group (malaria resistance)
Counted in Europe PMC, where the title or abstract names both this topic and that rsID. The number is papers, not evidence of a cause.
ADH1B
Alcohol metabolism speed
8 papers →MCM6 / LCT
Lactose tolerance
7 papers →EDAR
Hair thickness
5 papers →ALDH2
Alcohol flush reaction
4 papers →SLC45A2
Skin pigmentation
3 papers →ACTN3
Muscle fiber type ("sprinter gene")
3 papers →PSCA
Bladder cancer
3 papers →DARC / ACKR1
Duffy blood group (malaria resistance)
3 papers →SH2B3
Vitiligo
3 papers →ABCC11
Earwax type & body odor
2 papers →MTHFR
Folate metabolism (MTHFR C677T)
2 papers →VKORC1
Warfarin sensitivity
2 papers →CYP17A1
Systolic blood pressure
1 paper →TYR
Skin pigmentation
1 paper →G6PD
G6PD deficiency (G6PD A-)
1 paper →CD44
Vitiligo
1 paper →near SMIM38
Prostate cancer
1 paper →AHI1
Multiple sclerosis
1 paper →NT5C2
Systolic blood pressure
1 paper →IL23R
Crohn's disease
1 paper →CCND3
Mean corpuscular volume
1 paper →HIP1
Body mass index
1 paper →RASGRP3
Systemic lupus erythematosus
1 paper →GDF5
Height
1 paper →XPNPEP1
Biliary atresia
1 paper →GCK
Glycated hemoglobin levels
1 paper →HPR
LDL cholesterol
1 paper →ADH1B
Alcohol dependence
1 paper →HLA-B
HIV-1 control
1 paper →HLA-DQB1
Chronic hepatitis B infection
1 paper →HLA-DPA1
Hepatitis B
1 paper →RAPGEF6
Itch intensity from mosquito bite adjusted by bite size
1 paper →CYP2C19
CYP2C19 *2 — clopidogrel activation
1 paper →APOE
Lewy body disease
1 paper →G6PC2
Fasting plasma glucose
1 paper →FUT2
Secretor status
1 paper →BDNF
Smoking behavior
1 paper →POU5F1B
Prostate cancer
1 paper →APOE
Cholesterol, total
1 paper →CYP3A5
CYP3A5 expression (*3 allele)
1 paper →TCF7L2
Type 2 diabetes
1 paper →CFH
Circulating myeloperoxidase levels (serum)
1 paper →TPM4
Platelet count
1 paper →PROCR
Anticoagulant levels
1 paper →PSORS1C1
Crohn's disease
1 paper →ABCA1
HDL cholesterol
1 paper →Europe PMC, title and abstract only, searched for “natural selection”, “positive selection”, “selective sweep”, “genetic adaptation” alongside each published rsID. Full text was not counted: it returns every paper with an rsID buried in a supplementary table. Recounted monthly.
Natural selection is this site's topic page for variants where population geneticists have measured selection acting directly on the locus, not just an association with a trait — the rare part of human genetics where the story is evolutionary rather than clinical.
No — most were favored for a completely different reason (digesting milk, tolerating alcohol, resisting malaria, hair thickness), and several carry no disease risk at all. What they share is a documented signature of selection, not a shared health effect.
Ancient DNA sequencing and new statistical methods have turned selection detection from comparing populations as they exist today into directly reconstructing how an allele's frequency changed generation by generation — and the loci it keeps returning to are largely the same six or seven names population genetics has pointed to for twenty years.
They are not co-mentions like the rest of the list. Each is backed by its own dedicated population-genetics study demonstrating selection at that exact locus, separate from whichever paper first described what the variant does.