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Table 2 Minor allele frequencies of the detected SNPs and mutations in SH2B1 excluding the screening group

From: Mutation screen in the GWAS derived obesity gene SH2B1including functional analyses of detected variants

    Genotypes cases   Genotypes controls     
Position rs-Number Amino acid exchange 11 12 22 Minor allele frequency cases [%] 11 12 22 Minor allele frequency controls [%] Odds Ratiod 95% Confidence Interval Nominal p-value
g.2749C/A rs147094247 Thr175Asp 11, 257 11 0 0.05 4,511 1 0 0.01 4.4 0.57 - 34.13 0.199c
g.8164A/G rs7498665 Thr484Ala 512 1,526 1,101 40.62 58 195 181 35.83 1.2 1.06-1.42 0.007 a
g.8250C/T rs60604881   70 87 22 36.59 73 75 37 40.27 0.86 0.63 - 1.15 0.323b
g.8738A/G rs62037368   176 2 0 0.56 182 3 0 0.81 0.69 0.11 - 4.16 1b
g.8764C/T rs62037369   65 81 32 40.73 79 82 23 34.78 1.29 0.95 - 1.74 0.107b
g.9483C/T   βThr656Ile, γPro674Ser 11,206 2 0 0.01 4,506 0 0 0.00 NA NA 1c
g.10182C/A    178 1 0 0.28 184 0 0 0.00 NA NA 0.493b
  1. a genotyped in 3,230 obese cases and 439 lean controls.
  2. b genotyped in a total of 179 obese cases and 185 lean controls.
  3. c genotyped in a total of 11,406 obese and overweight cases and 4,568 (mainly population based) controls.
  4. d Odds ratio is given with respect to the minor allele.