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Table 2 Summary statistics on genotyping results and SNP coverage in ESR1 and EGF for 92 Swedish controls

From: ESR1 and EGFgenetic variation in relation to breast cancer risk and survival

Summary statistics

ESR1

EGF

Number of successfully genotyped SNPs

228a

104b

Number of polymorphic SNPs

184

66

Number of common SNPsc

165

55

Number of SNPs deviating from HWEd

8

1

Number of SNPs included in study

157

54

Gene size (kb)

295.7

99.4

Sequence coverage of included SNPs (kb)

335.1

145.5

Mean spacing between included SNPs (kb)

2.1

2.7

Median spacing between included SNPs (kb)

1.8

2.3

Number of tagSNPs selected

52

15

Average tagSNP prediction of common SNPs included in study (R2)c

0.998

0.987

Coverage evaluatione

  

Average prediction of dropped SNPs (R2)

0.997

0.948

Percentage of R2 values ≥ 0.7

100

96.3

  1. HWE, Hardy-Weinberg equilibrium; SNP, single nucleotide polymorphism. a See Supplementary Table 1. b See Supplementary Table 2. c Common was defined as minor allele frequency ≥ 0.03. d p < 0.01. e SNP dropping method by Weale et al. [14].