TABLE 2

Frequencies of genetic variants identified in DCK in the present study

All the SNPs were in accordance with Hardy-Weinberg equilibrium.


Position with Respect to Translation Start Site as +1 (rs number)a

SNP/Indel

Location

Coding SNPs

Minor Allele Frequency

Observed Heterozygosity
CEPH
YRI
CEPH
YRI
-1372 G>A 5′-UTR 0.000 0.009 0 0.011
-1351 A>G 5′-UTR 0.000 0.042 0 0.1
-1321 C>T 5′-UTR 0.067 0.025 0.124 0.033
-815 G>A 5′-UTR 0.008 0.000 0.011 0
-435 C>T 5′-UTR 0.000 0.017 0 0.022
-357b C>G 5′-UTR 0.025 0.000 0.034 0
-245 G>C 5′-UTR 0.000 0.033 0 0.056
-240 G>T 5′-UTR 0.008 0.000 0.023 0
-198b C>T 5′-UTR 0.025 0.000 0.034 0
-139 C>A 5′-UTR 0.000 0.008 0 0.022
-52 G>A 5′-UTR 0.000 0.025 0 0.044
-33 C>A 5′-UTR 0.000 0.008 0 0.011
70 A>G Exon 1 I24V 0.000 0.025 0 0.044
121 A>G Intron 1 0.008 0.000 0.011 0
128 G>C Intron 1 0.025 0.000 0.067 0
160 C>A Intron 1 0.000 0.008 0 0.011
325 G>C Intron 1 0.009 0.000 0.012 0
759 A>G Intron 1 0.025 0.15 0.047 0.29
1090 T>A Intron 1 0.000 0.026 0 0.068
1115 A>T Intron 1 0.000 0.073 0 0.133
1123 A>T Intron 1 0.000 0.017 0 0.045
1124 T>A Intron 1 0.009 0.009 0.013 0.025
1201 C>T Intron 1 0.000 0.075 0 0.138
1202(rs2035576) T>G Intron 1 0.000 0.192 0 0.367
1333 A>G Intron 1 0.000 0.018 0 0.024
1718 T>C Intron 1 0.000 0.065 0 0.122
1901 T>C Intron 1 0.017 0.000 0.033 0
1948 A>G Intron 1 0.000 0.017 0 0.045
2162 G>A Intron 1 0.000 0.026 0 0.057
3051 T>A Intron 1 0.000 0.017 0 0.045
3122(rs3775289) C>T Intron 1 0.050 0.767 0.111 0.33
3192 C>T Intron 1 0.000 0.010 0 0.026
3547 C>T Intron 1 0.000 0.017 0 0.045
3558 T>C Intron 1 0.026 0.275 0.037 0.372
3644 T>C Intron 1 0.184 0.000 0.228 0
4058(rs9993633) G>A Intron 1 0.050 0.350 0.111 0.444
4122(rs7693891) T>G Intron 2 0.000 0.033 0 0.056
4369 `tagataaaag'deletion Intron 2 0.000 0.125 0 0.211
4449 C>T Intron 2 0.000 0.025 0 0.045
4461(rs6446988) G>A Intron 2 0.050 0.767 0.111 0.33
28624 C>T Exon 3 A100A 0.042 0.000 0.056 0
28680 C>G Exon 3 A119G 0.000 0.017 0 0.045
28688 C>T Exon 3 P122S 0.025 0.017 0.045 0.022
28778 G>A Intron 3 0.025 0.000 0.056 0
29377 C>T Intron 3 0.000 0.009 0 0.012
29507 A>T Intron 3 0.000 0.008 0 0.022
29559 A>C Intron 3 0.000 0.017 0 0.045
31942 C>T Intron 4 0.000 0.025 0 0.034
32421 G>A Intron 5 0.009 0.000 0.015 0
32484(rs936869) C>T Intron 5 0.050 0.767 0.111 0.33
35708(rs4643786) T>C 3′-UTR 0.050 0.767 0.111 0.33
35874 T>G 3′-UTR 0.000 0.010 0 0.025
36088 C>A 3′-UTR 0.000 0.026 0 0.057
36113 C>T 3′-UTR 0.000 0.026 0 0.057
36116 T>C 3′UTR 0.000 0.115 0 0.222
36283 A>G 3′-UTR 0.000 0.017 0 0.035
36498 G>A 3′-UTR 0.000 0.035 0 0.047
36668 C>T 3′-UTR 0.000 0.091 0 0.181
36737 C>G 3′-UTR 0.008 0.000 0.011 0
36791 G>A 3′-UTR 0.033 0.000 0.056 0
36865(rs16845677) A>T 3′-UTR 0.000 0.127 0 0.213
36969 A>G 3′-UTR 0.000 0.032 0 0.067
37017 `tta'deletion 3′-UTR 0.000 0.123 0 0.235
37179(rs4525938)
T>A
3′-UTR

0.050
0.66
0.19
0.48
  • a The rs number for SNPs identified in the present study and shared with HapMap Project.

  • b SNPs referred as -360 and -201 by Shi et al. (2004).