Table 2: Minor allele frequencies of the detected SNPs and mutations in SH2B1 excluding the screening group
Genotypescases / GenotypescontrolsPosition / rs-Number / Amino acid exchange / 11 / 12 / 22 / Minor allele frequency cases [%] / 11 / 12 / 22 / Minor allele frequency controls [%] / Odds Ratiod / 95% ConfidenceInterval / 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 / 0.007a
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
a genotyped in 3,230 obese cases and 439 lean controls
b genotyped in a total of 179 obese cases and 185 lean controls
c genotyped in a total of 11,406 obese and overweight cases and 4,568 (mainly population based) controls
dOdds ratio is given with respect to the minor allele.
1