Table 1 List of coding polymorphisms investigated for differential allelic expression, with the respective possible functional effects
Gene | SNP | Aminoacid/Position | Alleles | Pathway | Functional Effect |
|---|---|---|---|---|---|
BRCA1 | rs799917 | P871L | C/T | DSB repair | Unknown |
BRCA2 | rs144848 | N372H | A/C | DSB repair | Unknown |
C1qA | rs172378 | G92G | A/G | Complement Cascade | Reduced Activity |
CCND3 | rs1051130 | A259S | G/T | Cell Cycle | Unknown |
EMSY | rs2282611 | 5'UTR | A/C | DNA repair | Unknown |
GPX1 | rs1050450 | L200P | T/C | Antioxidant Defense | Unknown |
GPX4 | rs713041 | 3'UTR | C/T | Antioxidant Defense | Reduced Activity |
MLH3 | rs175080 | P844L | C/T | Mismatch Repair | Unknown |
MTHFR | rs1801133 | A222V | C/T | Folate metabolism | Reduced Activity |
NBS1 | rs709816 | D399D | C/T | Homologous Recombination | None |
TP53 | rs1042522 | R72P | G/C | Apoptosis | Differential apoptotic potential |
TRXR2 | rs1139793 | T370I | C/T | Antioxidant Defense | Unknown |