Maximum Credible Allele Frequency (Whiffin)
Maximum credible allele frequency for a dominant or recessive disease model, and its allele-count ceiling (Whiffin 2017).
Open the calculator → Runs in your browser. Data leaves only if you deliberately send a problem report from the interactive tool.
Example
- Inheritance
- Dominant (one allele causes disease)
- Disease prevalence
- 1 in 500
- Maximum allelic contribution
- 0.02
- Maximum genetic contribution
- 1
- Penetrance
- 0.5
- Allele number
- 121412
- Allele count
- 3
Result: Allele count 3 is at or below the ceiling of 9: not excluded by frequency.
The tool opens with these values already filled in. Replace them with your own.
What you enter
- Inheritance
- Disease prevalence (1 in N or a fraction)
- Maximum allelic contribution
- Maximum genetic contribution (default 1)
- Penetrance
- Allele number (AN)
- Allele count (AC)
- Filtering allele frequency (FAF)
How this is calculated
Citation
Whiffin N, et al. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med 2017;19:1151-1158 (CC BY 4.0), with the 1/2 and genetic-contribution terms as the worked example and the authors' calculator (alleleFrequencyApp, server.R) apply them. Read the source ↗
A reference and educational tool. Not medical, legal, or financial advice, and not a substitute for clinician judgment.