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. 2014 Apr 3;94(4):586–598. doi: 10.1016/j.ajhg.2014.03.008

Table 3.

Analysis Results of Variations Identified in Resequencing within the Noncoding Region of BLK

Genomic Location Nucleotide Change dbSNP Associated Allele Case, Control Ratio Counts (191, 96) OR (95% CI) p Value r2(with rs13277113)
11,349,576 C>A rs2251056 A 321:61, 150:42 1.47 (0.95–2.28) 0.0819 0.066
11,350,515 C>T rs76610494 T 8:374, 1:191 4.10 (0.51–32.92) 0.1522 0.006
11,350,678 T>C rs2736344 C 329:53, 149:43 1.79 (1.15–2.80) 0.0098 0.072
11,350,721 C>G rs9694294 G 323:59, 149:43 1.58 (1.02–2.45) 0.0398 0.078
11,350,899 T>C rs1382567 T 199:183, 93:99 1.16 (0.82–1.64) 0.4083 0.335
11,351,019 G>A rs4840568 A 125:257, 41:151 1.79 (1.29–2.69) 0.0046 0.852
11,351,220 A>C rs1382568a C 121:261, 38:154 1.88 (1.24–2.85) 0.0027 0.889
11,351,220 A>G rs1382568a A 200:182, 94:98 1.15 (0.81–1.62) 0.4423 0.331
11,351,912 C>T rs922483 T 137:245, 43:149 1.94 (1.30–2.89) 0.001 0.741
11,352,056 A>G rs2250788 G 320:62, 148:44 1.53 (0.99–2.37) 0.0514 0.059
11,366,671 C>T rs115856097 C 274:108, 128:64 1.27 (0.87–1.84) 0.2117 0.037
11,367,037 G>C rs4629826 G 358:24, 176:16 1.36 (0.70–2.62) 0.3626 0.018
11,367,042 C>T rs76154097 T 55:327, 23:169 1.24 (0.73–2.08) 0.4249 0.038
11,367,092 T>C rs2409782 C 91:291, 45:147 1.02 (0.68–1.54) 0.9186 0.001
11,415,571 A>G rs4841557 A 158:222, 63:129 1.46 (1.01–2.10) 0.042 0.187
11,415,596 C>T rs4841558 C 157:223, 63:129 1.44 (1.00–2.08) 0.0484 0.181
11,418,385 G>A rs1042695 A 145:237, 59:133 1.38 (0.95–2.00) 0.0878 0.179
11,418,765 G>A rs368588162 A 335:45, 157:35 1.66 (1.03–2.68) 0.0375 0.019
11,418,766 G>A rs62490888 G 340:42, 157:35 1.81 (1.11–2.94) 0.0164 0.015
11,418,772 C>T rs4841561 T 146:234, 59:133 1.41 (0.97–2.04) 0.07 0.177
11,421,383 C>T rs10097015 T 160:222, 68:122 1.29 (0.90–1.85) 0.1608 0.161
11,421,793 C>T rs1042689 T 144:238, 62:130 1.27 (0.88–1.83) 0.2028 0.161
11,422,045 G>A rs1042701 G 213:169, 98:94 1.21 (0.86–1.71) 0.2845 0.2
11,422,130 T>C rs7843987 T 212:170, 100:92 1.15 (0.81–1.62) 0.4385 0.219

The two SNPs shown in italics (rs1382568 and rs922483) showed association with the loci identified from the GWAS (rs13277113, OR 1.39, p = 1 × 10−10, ref.1) with r2 > 0.5; ars1382568 is a tri-allelic SNP (A/C/G); the C allele was identified as a risk allele.