Table 4. MAF and functional significance of the SNPs investigated in the current study.
Gene | SNP ID | Allele | Functional | MAF |
TGF-β 1 | rs35383147 | A/G/T | ThR24 = | NA |
TGF-β 2 | rs6684205 | G/A | intron | 0.482 |
rs114663618* | C/T | intron | NA | |
rs10482810 | G/C | Val235Leu | 0.001 | |
rs7531245 | A/C | intron | 0.011 | |
TGF-β 3 | rs11466415 | C/T | Ala13 = | 0.002 |
rs4252315 | C/T | Thr60Met | 0.003 | |
TGF-β R1 | rs11466445* | −/GGCGGCGGC | Ala23fs | NA |
rs75857126* | C/T | Ile147Thr | NA | |
rs113982335* | A/C | Asn160His | NA | |
TGF-β R2 | rs2043136 | T/C | 3′ near gene | 0.314 |
rs1155705 | A/G | intron | 0.425 | |
rs3087465 | A/G/T | 5′ near gene | 0.337 | |
rs11466530* | C/T | intron | 0.001 | |
rs17026332 | A/C | 3′ UTR | 0.009 | |
rs11466512 | A/T | intron | 0.311 | |
rs61762550* | C/T | Arg218Trp | 0.0005 | |
rs114457508 | T/G | Val276Gly | NA | |
rs28934568* | C/T | Leu333Pro | NA | |
rs34833812 | C/T | Thr340Met | 0.006 | |
rs3209742* | A/T | Glu341Val | NA | |
rs17854016 | G/T | Glu360Ter | NA | |
rs2228048 | C/T | Asn41 = | 0.083 | |
SMAD4 | rs4939650 | C/G | 5′ near gene | 0.497 |
rs1801250 | C/T | Phe362 = | 0.002 | |
rs112891188* | C/T | Ala220 = | NA | |
rs75667697 | G/T | Leu229Arg | NA | |
rs113545983 | A/G | Gln549 = | NA |
MAF: minor allele frequency.
No variant allele was detected in the current study population.
“ = ” represents synonymous gene variants, i.e. no amino acid change.