Table 1.
SNPs Examined and Allele Frequency
| Gene | Chromosome | SNP | Function | RS# | Minor Allele Frequency |
|
|---|---|---|---|---|---|---|
| Observed | Reported* | |||||
| IGF1 | 12q22-q23 | -1409T>C | 5′ Flank | 35767 | 0.176 | 0.161 |
| IVS2+10605A>G | Intron | 7956547 | 0.255 | 0.25 | ||
| IVS2+12719G>C | Intron | 2195239 | 0.252 | 0.235 | ||
| IVS2+25185C>T | Intron | 10735380 | 0.296 | 0.285 | ||
| *8470T>C | 3′ Flank | 2946834 | 0.335 | 0.313 | ||
| *10212C>A | 3′ Flank | 10860862 | 0.187 | 0.175 | ||
| Ex4-517G>A | 3′UTR | 6219 | failed | 0.076 | ||
| Ex4+2776G>A | 3′UTR | 6214 | 0.30 | 0.421 | ||
| Ex4-2894G>A | 3′UTR | 1063599 | failed | 0.16 | ||
| IGF1R | 15q26.3 | IVS2-70184A>G | Intron | 2684761 | 0.39 | 0.415 |
| IVS2-35846T>C | Intron | 1879612 | 0.444 | 0.42 | ||
| IVS2+46329T>C | Intron | 8041224 | 0.401 | 0.40 | ||
| IVS11+538G>A | Intron | 4966044 | 0.381 | 0.392 | ||
| IVS15+1950A>G | Intron | 7166558 | 0.411 | 0.392 | ||
| IVS17-598C>T | Intron | 2684799 | 0.407 | 0.492 | ||
| IVS20-3431A>G | Intron | 12437963 | 0.181 | 0.142 | ||
| IVS20-797G>T | Intron | 2872060 | 0.482 | 0.457 | ||
| Ex11+97C>T | T766T | 3743262 | 0.058 | 0.058 | ||
| Ex16-58G>A | E1043E | 2229765 | 0.439 | 0.419 | ||
| Ex21+316C>T | Y1346Y | 17847203 | 0.063 | 0.056 | ||
| IGF2 | 11p15.5 | *4352A>G | 3′ Flank | 11042751 | 0.189 | 0.29 |
| IVS2+384C>T | Intron | 734351 | failed | 0.387 | ||
| IGF2R | 6q26 | Ex6-23C>G | L252V | 8191754 | 0.124 | 0.142 |
| Ex9+5A>G | S350S | 1570070 | 0.348 | 0.342 | ||
| Ex16+88A>G | T713T | 998075 | 0.483 | 0.452 | ||
| Ex45+11C>T | L2222L | 1803989 | 0.107 | 0.097 | ||
| IGFBP1 | 7p13-p12 | Ex4+111A>G | I253M | 4619 | 0.40 | 0.36 |
| IGFBP3 | 7p13-p12 | Ex1+227C>G | A32G | 2854746 | 0.39 | 0.403 |
| Ex5-411A>T | 3′UTR | 6670 | 0.211 | 0.197 | ||
| Ex2+70A>C | H164P | 9282734 | 0.005 | 0.01 | ||
| -202A>C | Promoter | 2854744 | 0.48 | 0.476 | ||
| IGFBP5 | 2q33-q36 | IVS1-6727A>C | Intron | 7420849 | 0.43 | 0.45 |
| Ex2+75C>T | R138W | 11575194 | 0.043 | 0.05 | ||
| IRS1 | 2q36 | IVS1-10949G>A | Intron | 35802832 | 0.045 | 0.12 |
| IVS1+4315C>G | Intron | 2288586 | 0.07 | 0.097 | ||
| IVS1+14180A>T | Intron | 1025333 | failed | 0.15 | ||
| Ex1-840G>A | G972R | 1801278 | 0.076 | 0.07 | ||
| Ex1-2217G>C | A512P | 1801276 | 0.026 | 0.06 | ||
| IRS2 | 13q34 | IVS1+166T>C | Intron | 9521511 | 0.391 | 0.43 |
| IVS1+2498G>A | Intron | 7981705 | 0.169 | 0.175 | ||
| IVS1+5687T>C | Intron | 1974134 | 0.299 | 0.44 | ||
| Ex1-1526C>T | P829P | 12853546 | 0.229 | 0.177 | ||
| Ex1-843G>A | G1057D | 1805097 | 0.315 | 0.21 | ||
| Ex2+750A>G | 3′UTR | 2289046 | 0.362 | 0.379 | ||
| IRS4 | Xq22.3 | Ex1+137G>A | A20A | 2073115 | 0.18 | 0.167 |
SNP, single nucleotide polymorphism; RS#, reference SNP identification number; UTR, untranslated region.
*
The reported minor allele frequency was from the SNP500Cancer and NCBI dbSNP databases.