Gene Calculators
  • SMAGPC
  • PloPaBoFy
    • PloPaBoFy 3.0
    • PloPaBoFy 3.0 Express
  • p,q CHWE
    • p,q CHWE: Genotypes
    • p,q CHWE: Check
    • p,q CHWE: p,q
    • p,q CHWE: PolyPICker
  • AssociatORRR
    • AssociatORRR CC
  • CI 1-α
    • Proportions
    • Counts & Rates
    • Mean
    • ConfIT de MAF
  • XLRator
  • FH Calcs
    • LDL-C SNP Scorer
    • HyperLDL-C Sourcery
  • SMAGPC
  • PloPaBoFy
    • PloPaBoFy 3.0
    • PloPaBoFy 3.0 Express
  • p,q CHWE
    • p,q CHWE: Genotypes
    • p,q CHWE: Check
    • p,q CHWE: p,q
    • p,q CHWE: PolyPICker
  • AssociatORRR
    • AssociatORRR CC
  • CI 1-α
    • Proportions
    • Counts & Rates
    • Mean
    • ConfIT de MAF
  • XLRator
  • FH Calcs
    • LDL-C SNP Scorer
    • HyperLDL-C Sourcery

ConfIT de MAF

Confidence Intervals for Thresholds of Minor Allele Frequency
This edition of CI 1-α has been specifically designed with the ACMG criteria pertaining to allele frequencies in mind (i.e. PM2, BA1, BS1). These criteria ask a one-sided question. For example, PM2 asks: 'is the population frequency of the variant below a certain threshold value?' or BA1 asks 'is the population frequency of the variant above a certain threshold?'. The allele frequencies in ExAC or gnomAD are based on a sample of the population; hence just because the observed frequency meets the criteria does not necessarily mean the true allele frequency does. A confidence interval is a very useful indicator of how confident we can be that the true allele frequency meets the criteria.  Because of the one-sided nature of any pre-specified threshold-based criterion, a one-sided confidence interval is most appropriate. This calculator uses the exact binomial method by default. The exact Poisson method can also be selected.​
Please do not attempt to download this program. This program will not operate if downloaded.
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