Table 3.
Allelic frequencies | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
SNP | Variant | Location | Chromosome 8 position NCBI AY168006 | refSNPb ID No. | Caucasion (n = 129) | African-American (n = 70) | Hispanic (n = 60) | Asian (n = 19) | Mixed (n = 13) | Total (n = 291) |
1 | −88C>G | Exon 1 | 54214007 | 0 | 0.029 | 0 | 0 | 0 | 0.007 | |
2 | IVS1113G>A | Intron 1 | 54213855 | 0.047 | 0.088 | 0.060 | 0 | 0.100 | 0.052 | |
3 | IVS1133G>A | Intron 1 | 54213835 | 0 | 0.079 | 0.017 | 0 | 0.038 | 0.024 | |
4 | IVS1339C>T | Intron 1 | 54213629 | 0.006 | 0.092 | 0.017 | 0 | 0.077 | 0.031 | |
5 | 36G>T | Exon 2 | 54213522 | rs1051660 | 0.136 | 0.157 | 0.058 | 0.237 | 0.077 | 0.129 |
6 | 459C>T | Exon 3 | 54197430 | rs7815824 | 0.031 | 0.150 | 0.067 | 0 | 0.038 | 0.065 |
7 | 508C>Ta | Exon 3 | 54197381 | 0 | 0.007 | 0 | 0 | 0 | 0.002 | |
8 | 843A>G | Exon 4 | 54192117 | rs702764 | 0.143 | 0.486 | 0.267 | 0.026 | 0.308 | 0.251 |
9 | 846C>T | Exon 4 | 54192114 | 0.050 | 0.150 | 0.033 | 0 | 0.077 | 0.069 | |
10 | 852C>T | Exon 4 | 54192108 | 0 | 0.007 | 0 | 0 | 0 | 0.002 | |
11 | 948C>T | Exon 4 | 54192012 | 0.004 | 0.043 | 0 | 0 | 0 | 0.012 | |
12 | 1008C>T | Exon 4 | 54191952 | 0 | 0 | 0.008 | 0 | 0 | 0.002 |
Amino acid substitution Arg169Cys (IC loop 2);
refSNP ID from Build 116 of dbSNP as of 19 April 2004. SNP, Single nucleotide polymorphism.