Table 1 Main characteristics of the seven genetic variants analysed in this study
Polymorphism | Allele variant | Amino acid change | Gene | ||
|---|---|---|---|---|---|
Location | Position | NCBI dbSNP rs# | |||
Factor V Leiden | 1691G>A | R506Q | 1q23 | Exon 10 | rs6025 |
Prothrombin | 20210G>A | NA | 11p11-q12 | 3'-UTR | rs1799963 |
MTHFR | 677C>T | A222V | 1p36.3 | Exon 5 | rs1801133 |
1298A>C | E429A | 1p36.3 | Exon 8 | rs1801131 | |
CYP2C9*2 | 430C>T | R144C | 10q24.1 | Exon 3 | rs1799853 |
CYP2C9*3 | 1075A>C | I359L | 10q24.1 | Exon 7 | rs1057910 |
VKORC1 | 1639G>A | NA | 16p11.2 | Promoter | rs9923231 |