1. Interpretation of Association Signals and Identification of Causal Variants from Genome- wide Association Studies 
Kai Wang, Samuel P. Dickson, Catherine A. Stolle, Ian D. Krantz, David B. Goldstein, Hakon Hakonarson 
The American Journal of Human Genetics 
Volume 86, Issue 5, Pages (May 2010)
DOI: /j.ajhg
Copyright © 2010 The American Society of Human Genetics Terms and Conditions

2. Figure 1
An Illustration Comparing the Canonical Common Disease/Common Variants Assumption and the “Synthetic Association” Theory
The left panel represents a genealogy tree showing the emergence of causal mutations and tag SNPs over human evolutionary history, while the right panel illustrates the catalog of variants within present human populations. Under synthetic association, the best tag SNP captures the combined effects of causal mutations; additionally, since causal variants arise recently, the tag SNP is in long-range LD with either causal variant.
The American Journal of Human Genetics  , DOI: ( /j.ajhg )
Copyright © 2010 The American Society of Human Genetics Terms and Conditions

3. Figure 2
Illustration of an Odds Ratio for a Tag SNP and a Synthetic Causal Marker
The relationship between the odds ratio (OR) observed on a tag SNP with MAF = 30% and the true OR for a synthetic causal marker is shown, with MAF ranging from 1% to 10%. In all scenarios, the tag SNP underestimate the true effect size, especially when the causal marker is relatively rare.
The American Journal of Human Genetics  , DOI: ( /j.ajhg )
Copyright © 2010 The American Society of Human Genetics Terms and Conditions

4. Figure 3
Illustration of λS for a Tag SNP and a Synthetic Causal Marker
The relationship between λS for a tag SNP with MAF = 30% and the true λS for a synthetic causal marker is shown, with MAF ranging from 1% to 10% (each dot represents 1% increase), under three effect sizes with multiplicative genetic models. In all cases, the tag SNP underestimates the familial aggregation explained by the true causal variant.
The American Journal of Human Genetics  , DOI: ( /j.ajhg )
Copyright © 2010 The American Society of Human Genetics Terms and Conditions