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Table 1 Analysis of real data: real SBP and candidate gene AGTR1

From: Comparing strategies for combined testing of rare and common variants in whole sequence and genome-wide genotype data

SNP panel Weight Common SNPs Rare SNPs Joint tests
MAF >5 % MAF ≤5 % Default WS Fisher
NSNP p value NSNP p value p value p value p value
AGTR1 with no flanking region, positions 148415571–148460795
 GWAS equal 11 0.189 7 0.097 0.177 0.102 0.101
1/ν 11 0.113 7 0.050 0.054 0.044 0.043
 SEQ equal 74 0.203 138 0.060 0.173 0.076 0.076
1/ν 74 0.160 138 0.098 0.083 0.088 0.090
AGTR1 with 30 kb flanking region, positions 148385571–148490795
 GWAS equal 30 0.100 12 0.072 0.092 0.050 0.052
1/ν 30 0.045 12 0.069 0.030 0.029 0.029
 SEQ equal 198 0.053 300 0.067 0.047 0.030 0.032
1/ν 198 0.039 300 0.172 0.045 0.044 0.050
AGTR1 with 500 kb flanking region, positions 147915571–148960795
 GWAS equal 277 0.206 51 0.048 0.196 0.061 0.065
1/ν 277 0.151 51 0.064 0.102 0.059 0.066
 SEQ equal 2170 0.192 2244 0.069 0.173 0.080 0.085
1/ν 2170 0.157 2244 0.051 0.062 0.057 0.060
AGTR1 containing LD-block, positions 148344702–148568958
 GWAS equal 80 0.058 19 0.076 0.055 0.035 0.036
1/ν 80 0.040 19 0.114 0.034 0.036 0.039
 SEQ equal 499 0.029 592 0.106 0.027 0.027 0.030
1/ν 499 0.027 592 0.112 0.025 0.026 0.030
  1. Association of AGTR1 with real SBP was tested with a linear kernel on minor allele dosage data for GWAS and sequence (SEQ); p ≤0.05 bold. NSNP common and rare SNPs, respectively, were combined into joint tests: kernel K all (default), weighted sum test (WS), and Fisher’s p value pooling for correlated p values