Table 3.
Gene | rs no. | HGVS name | Chromosome no. | Position | Amino acid change | Call rate (%) | Accuracy (%) |
---|---|---|---|---|---|---|---|
COX2 | rs5277 | c.306G > C | 1 | Codon102 | Val102= | 99.8 | 100 |
rs3218625 | c.1759G > A | 1 | Codon587 | Gly587Arg | 100 | 100 | |
EPHX1 | rs3766934 | c.-5-1409G > T | 1 | Intron | - | 99.4 | 100 |
rs1051740 | c.337 T > C | 1 | Codon113 | Tyr113His | 99.6 | 100 | |
rs2234922 | c.416A > G | 1 | Codon139 | His139Arg | 98.7 | 100 | |
HSP70-hom | rs2227956 | c.1478C > T | 6 | Codon493 | Met493Thr | 99.1 | 100 |
rs2075800 | c.1804G > A | 6 | Codon602 | Glu602Lys | 99.5 | 100 | |
PON1 | rs854560 | c.163 T > A | 7 | Codon55 | Leu55Met | 99.5 | 100 |
rs13306698 | c.478A > G | 7 | Codon160 | Arg160Gly | 99.8 | 100 | |
rs662 | c.575A > G | 7 | Codon192 | Gln192Arg | 93.5 | 100 | |
eNOS | rs1799983 | c.894 T > G, | 7 | Codon298 | Asp298Glu | 99.5 | 100 |
rs2853796 | c.1821-62G > T | 7 | Intron | - | 99.5 | 100 | |
rs7830 | c.3106 + 11G > T | 7 | Intron | - | 99.5 | 100 | |
CAT | rs769218 | c.67-60G > A | 11 | Intron | - | 100 | 100 |
rs769217 | c.1167C > T | 11 | Codon389 | Asp389= | 98.7 | 100 | |
DRD2 | rs1800497 | c.2137G > A | 11 | Codon713 | Glu713Lys | 99.6 | 100 |
SOD2 | rs4880 | c.47 T > C | 16 | Codon16 | Val16Ala | 99.2 | 100 |
rs2758331 | c.523 + 816G > T | 16 | Intron | - | 99.6 | 100 | |
rs5746136 | c.*441G > A | 16 | Downstream | - | 99.8 | 100 | |
MPO | rs7208693 | c.157G > T | 17 | Codon53 | Val53Phe | 99.3 | 100 |
rs2071409 | c.2031-6A > C | 17 | Intron | - | 99.5 | 100 |