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Statistical

Hardy-Weinberg Equilibrium formula: allele & heterozygous carrier frequency (2pq)

Explore two-allele genotype proportions under Hardy–Weinberg assumptions using an assumed recessive homozygote frequency.

From an assumed recessive homozygote frequency to allele proportions

For a two-allele autosomal locus in a Hardy–Weinberg model, p+q=1 and genotype proportions are p², 2pq and q². If q²=0.0004, then q=0.02, p=0.98 and 2pq=0.0392. These are population model proportions, not an individual test result or family risk estimate.

The ideal equilibrium assumptions include random mating, a large population and no relevant selection, mutation or migration. Inferring q² from observed disease frequency also requires a matching recessive phenotype model; incomplete penetrance and multiple causal variants can invalidate that inference. A heterozygote is not universally asymptomatic. The labels p and q distinguish alleles rather than normal versus abnormal people.

Genetic Equilibrium Quantity (Observed q^2 = 0.0004)FormulaPopulation Share
Recessive Allele Frequency (q)SQRT(q^2) = SQRT(0.0004)0.0200 (2.00%)
Other allele frequency (p)1 - q = 1 - 0.020.9800 (98.00%)
Heterozygous Carrier Frequency (2pq)2 * 0.98 * 0.020.0392 (3.92% — ~1 in 25!)
Homozygous Dominant Frequency (p^2)0.98 ^ 20.9604 (96.04%)

Calculate heterozygous carrier frequency (2pq) from recessive incidence (q^2)

A2 supplies an assumed recessive homozygote proportion q², from 0 to 1. It is not an incidence rate with a time denominator.

=IF(OR(NOT(ISNUMBER(A2)),A2<0,A2>1),"Invalid inputs",LET(q, SQRT(A2), p, 1 - q, ROUND(2 * p * q, 4)))

Verify homozygous dominant genotype frequency (p^2)

Unrounded model proportions sum to one. Separately rounded values may differ slightly from one; an arithmetic identity is not evidence that a population satisfies equilibrium.

=IF(OR(NOT(ISNUMBER(A2)),A2<0,A2>1),"Invalid inputs",LET(q, SQRT(A2), ROUND((1 - q) ^ 2, 4)))

Try the example

Use the original values or change them to test your understanding.

Further reading