Table 1.
FZD1 Polymorphism Discovery by DNA Sequence Analysis of 48 Afro-Caribbean Individuals
| Location | Relative position* | Position on chromosome 7† | Reference SNP ID |
Alleles |
Codon | Amino Acid change |
Genotype frequency |
Minor allele frequency | ||
| 1/2‡ | 1/1‡ | 1/2‡ | 2/2‡ | |||||||
| 5′ flanking region | −2408 to −2409 | 90,728,420–90,728,421 | rsl0654396 | AG/− | 47 | 1 | 0 | 0.010 | ||
| −2030 | 90,730,102 | C/T | 47 | 1 | 0 | 0.010 | ||||
| −1337 | 90,730,795 | C/A | 45 | 3 | 0 | 0.031 | ||||
| −1297 | 90,730,835 | G/A | 41 | 1 | 0 | 0.012 | ||||
| −1296 | 90,730,836 | C/T | 41 | 1 | 0 | 0.012 | ||||
| −1285 | 90,730,847 | C/T | 40 | 1 | 1 | 0.036 | ||||
| −1275 | 90,730,857 | C/T | 39 | 3 | 0 | 0.036 | ||||
| −1272 | 90,730,860 | C/T | 41 | 1 | 0 | 0.012 | ||||
| −1269 | 90,730,863 | G/T | 41 | 1 | 0 | 0.012 | ||||
| −1252 | 90,730,880 | C/T | 41 | 1 | 0 | 0.012 | ||||
| −1248 | 90,730,884 | C/T | 41 | 1 | 0 | 0.012 | ||||
| −652 | 90,731,480 | rs2232151 | A/G | 44 | 3 | 0 | 0.032 | |||
| −612 | 90,731,520 | G/A | 46 | 1 | 0 | 0.011 | ||||
| −611 | 90,731,521 | C/T | 46 | 1 | 0 | 0.011 | ||||
| −601 | 90,731,531 | G/A | 46 | 1 | 0 | 0.011 | ||||
| −587 | 90,731,545 | rs2232152 | T/A | 46 | 1 | 0 | 0.011 | |||
| −580 | 90,731,552 | rs2232154 | G/T | 46 | 1 | 0 | 0.011 | |||
| −570 | 90,731,562 | G/A | 44 | 1 | 0 | 0.011 | ||||
| −561 | 90,731,571 | G/A | 46 | 1 | 0 | 0.011 | ||||
| −449 | 90,731,683 | C/T | 47 | 1 | 0 | 0.010 | ||||
| −415 | 90,731,717 | C/T | 47 | 1 | 0 | 0.010 | ||||
| 5′ UTR | −225 | 90,731,907 | rs2232156 | C/T | 47 | 1 | 0 | 0.010 | ||
| −224 | 90,731,908 | rs2232157 | G/T | 29 | 11 | 3 | 0.198§ | |||
| −94 | 90,732,038 | rs2232158 | G/C | 21 | 19 | 6 | 0.337§ | |||
| Exon 1 | 190 | 90,732, 322 | G/A | 64 | Ala/Thr | 47 | 1 | 0 | 0.010 | |
| 265–281 | 90,732,396–90,732,412 | 4 repeats/5 repeats | 89–92 | CCG (Pro) | 13 | 22 | 9 | 0.455 | ||
| 408 | 90,732,539 | C/T | 136 | Asn/Asn | 45 | 1 | 0 | 0.011 | ||
| 540 | 90,732,671 | A/G | 180 | Leu/Leu | 42 | 4 | 0 | 0.043 | ||
| 1168 | 90,733,299 | G/A | 390 | Ala/Thr | 47 | 1 | 0 | 0.010 | ||
| 1368 | 90,733,499 | C/T | 456 | Ala/Ala | 47 | 1 | 0 | 0.010 | ||
| 1490 | 90,733,621 | T/G | 497 | Val/Gly | 47 | 1 | 0 | 0.010 | ||
| 1749 | 90,733,880 | rs2232161 | C/T | 583 | His/His | 45 | 1 | 1 | 0.032 | |
| 2040 | 90,734,171 | rs2232163 | G/A | 680 | Arg/Arg | 43 | 5 | 0 | 0.052§ | |
| 3′ UTR | 2636 | 90,734,767 | rs3750145 | T/C | 46 | 2 | 0 | 0.021 | ||
| 2841 | 90,734,972 | C/T | 47 | 1 | 0 | 0.010 | ||||
| 3536 | 90,735,667 | rsl052015 | A/C | 45 | 3 | 0 | 0.031 | |||
| 3687 | 90,735,818 | A/- | 46 | 2 | 0 | 0.021 | ||||
| 3770 | 90,735,901 | rsl0282617 | A/G | 47 | 1 | 0 | 0.010 | |||
| 3′ flanking region | 4095–4096 | 90,736,226-90,736,227 | AA/− | 40 | 6 | 0 | 0.065 | |||
* Base pair location is reported using the translation start site as a reference.
† Based on March 2006 human reference sequence (NCBI build 36.1).
‡ 1, major allele; 2, minor allele.
§ Common variation (minor allele frequency > 0.05) discovered and selected for genotyping in the population sample.