Table 2 Polymorphisms genotyped and allele frequency.
Gene | SNP | Variation | Patients* | Homozygous wild-type | Heterozygous | Homozygous variant | Observed MAF | MAF in dbSNP |
---|---|---|---|---|---|---|---|---|
AKT1 | rs3803304 C > G | Intron | 75 | 41 | 28 | 6 | 0.27 | 0.22 |
AKT1 | rs2498804 G > T | 3´near gene | 75 | 31 | 35 | 9 | 0.35 | 0.34 |
AKT1 | rs2494738 G > A | Intron | 71 | 57 | 13 | 1 | 0.11 | 0.07 |
AKT1 | rs1130214 G > T | 5´-UTR | 75 | 41 | 31 | 3 | 0.25 | 0.28 |
AKT2 | rs8100018 G > C | Intron | 75 | 43 | 29 | 3 | 0.23 | 0.26 |
AKT2 | rs892119 G > A | Intron | 75 | 55 | 19 | 1 | 0.14 | 0.14 |
AKT3 | rs12045585 G > A | Intron | 75 | 54 | 20 | 1 | 0.15 | 0.13 |
AKT3 | rs2994329 G > A | Intron | 74 | 46 | 27 | 1 | 0.20 | 0.20 |
ARNT | rs2228099 C > G | V189V | 73 | 24 | 41 | 8 | 0.39 | 0.39 |
CXCL12 | rs1801157 G > A | 3´-UTR | 73 | 41 | 32 | 0 | 0.22 | 0.21 |
FGFR2 | rs2981582 C > T | Intron | 75 | 32 | 24 | 19 | 0.41 | 0.46 |
FGFR4 | rs351855 C > T | G388R | 73 | 34 | 33 | 6 | 0.31 | 0.28 |
FLT3 | rs1933437 T > C | T227M | 73 | 21 | 40 | 12 | 0.44 | 0.34 |
FLT4 | rs307826 A > G | T494A | 74 | 53 | 19 | 2 | 0.16 | 0.10 |
HIF1A | rs11549465 C > T | P582S | 72 | 53 | 17 | 2 | 0.15 | 0.07 |
IL1b | rs1143634 C > T | F105F | 73 | 39 | 31 | 3 | 0.25 | 0.21 |
IL4 | rs2243250 C > T | Promoter | 75 | 56 | 18 | 1 | 0.13 | 0.14 |
IL8 | rs4073 T > A | 5´near gene | 72 | 24 | 36 | 12 | 0.42 | 0.40 |
IL10 | rs1800896 A > G | 5´near gene | 74 | 23 | 40 | 11 | 0.42 | 0.47 |
IL10 | rs1800872 C > A | 5´near gene | 73 | 36 | 29 | 8 | 0.31 | 0.21 |
KDR | rs2305948 C > T | V297L | 75 | 65 | 10 | 0 | 0.07 | 0.08 |
KDR | rs1870377 T > A | Q472H | 74 | 43 | 28 | 3 | 0.23 | 0.27 |
KDR | rs2071559 C > T | 5´near gene | 74 | 22 | 30 | 22 | 0.50 | 0.49 |
KDR | rs7692791 T > C | Intron | 74 | 18 | 41 | 15 | 0.48 | 0.48 |
KDR | rs1531289 C > T | Intron | 74 | 32 | 34 | 8 | 0.34 | 0.29 |
MTOR | rs11121704 T > C | Intron | 74 | 37 | 33 | 4 | 0.28 | 0.27 |
MTOR | rs2295080 T > G | 3´near gene | 74 | 31 | 34 | 9 | 0.35 | 0.30 |
MTOR | rs1074078 C > T | 5´near gene | 75 | 28 | 35 | 12 | 0.39 | 0.32 |
NOS3 | rs1799983 G > T | D298E | 72 | 22 | 37 | 13 | 0.44 | 0.34 |
PDGFRA | rs35597368 T > C | S478P | 73 | 55 | 16 | 2 | 0.14 | 0.13 |
PDGFRA | rs1800813 G > A | 5´near gene | 74 | 46 | 25 | 3 | 0.21 | 0.21 |
PDGFRA | rs1800810 C > G | Promoter | 73 | 45 | 24 | 4 | 0.22 | 0.21 |
PDGFRA | rs1800812 G > T | Promoter | 74 | 43 | 25 | 6 | 0.25 | 0.21 |
PGF | rs8185 A > G | 3´-UTR | 74 | 52 | 20 | 2 | 0.16 | 0.17 |
PIK3CA | rs7651265 A > G | Intron | 74 | 56 | 17 | 1 | 0.13 | 0.12 |
PIK3CA | rs7640662 C > G | Intron | 75 | 54 | 19 | 2 | 0.15 | 0.14 |
PIK3CA | rs7621329 C > T | Intron | 75 | 40 | 29 | 6 | 0.27 | 0.12 |
PIK3CA | rs6443624 C > A | Intron | 75 | 36 | 29 | 10 | 0.33 | 0.17 |
PIK3CA | rs2699887 G > A | Intron | 75 | 42 | 31 | 2 | 0.23 | 0.26 |
PTEN | rs2299939 C > A | Intron | 75 | 55 | 17 | 3 | 0.15 | 0.20 |
PTEN | rs12569998 T > G | Intron | 74 | 59 | 14 | 1 | 0.11 | 0.14 |
PTEN | rs12357281 G > C | Intron | 75 | 66 | 9 | 0 | 0.06 | 0.06 |
PTGS2 | rs5275 T > C | 3´-UTR | 74 | 40 | 27 | 7 | 0.28 | 0.38 |
RET | rs1799939 G > A | G691S | 73 | 48 | 21 | 4 | 0.20 | 0.11 |
RHEB | rs717775 A > C | Intron | 74 | 34 | 33 | 7 | 0.32 | 0.28 |
RICTOR | rs2043112 C > T | S837F | 75 | 26 | 35 | 14 | 0.42 | 0.41 |
RPTOR | rs7211818 A > G | Intron | 75 | 46 | 25 | 4 | 0.22 | 0.24 |
RPTOR | rs11653499 A > G | Intron | 74 | 40 | 23 | 11 | 0.30 | 0.30 |
RPTOR | rs7212142 G > A | Intron | 75 | 20 | 42 | 13 | 0.45 | 0.38 |
RPTOR | rs9674559 A > G | Intron | 74 | 45 | 25 | 4 | 0.22 | 0.25 |
TGFB1 | rs1800469 C > T | 5´near gene | 66 | 26 | 33 | 7 | 0.36 | 0.29 |
TGFBR1 | rs868 A > G | 3´-UTR | 74 | 46 | 24 | 4 | 0.22 | 0.20 |
TNF | rs1800629 G > A | Intron | 73 | 62 | 10 | 1 | 0.08 | 0.17 |
TNF | rs361525 G > A | 5´near gene | 74 | 63 | 1 | 10 | 0.14 | 0.07 |
TNF | rs1799724 C > T | 5´near gene | 74 | 61 | 13 | 0 | 0.09 | 0.07 |
TSC2 | rs2073636 C > T | Intron | 74 | 29 | 35 | 10 | 0.37 | 0.44 |
TSC2 | rs8063461 G > A | Intron | 75 | 28 | 39 | 8 | 0.37 | 0.44 |
VEGFA | rs2010963 G > C | 5´-UTR | 75 | 32 | 35 | 8 | 0.34 | 0.20 |
VEGFA | rs1570360 G > A | 5´near gene | 74 | 42 | 25 | 7 | 0.26 | 0.28 |
VEGFA | rs699947 C > A | 5´near gene | 75 | 26 | 35 | 14 | 0.42 | 0.48 |
VEGFA | rs3025039 C > T | 3´-UTR | 74 | 54 | 18 | 2 | 0.15 | 0.18 |
VEGFA | rs25648 C > T | S178S | 74 | 54 | 17 | 3 | 0.16 | 0.18 |
VEGFA | rs2146323 C > A | Intron | 74 | 37 | 30 | 7 | 0.30 | 0.34 |