Table 1 Brief description of the studied polymorphisms
Gene | Chromsomal region | Variation class | Variant | NCBI rsID | Function | Reference SNP allele | Ancestral allele | Residue change | Allele change | Minor allele | MAFa |
|---|---|---|---|---|---|---|---|---|---|---|---|
EDN1 | 6p24.1 | SNV | 9465G > A | rs2071942 | Intronic | A/G | A | na | na | A | 0.255 |
EDN1 | 6p24.1 | DIV | 3A/4A (134delA) | rs1800997 | UTR-5 | -/A | A | na | na | A | 0.216 |
SCNN1B | 16p12.2 | SNV | Thr594Met (1781C > T) | rs1799979 | Missense | C/T | C | T[Thr] = > M[Met] | ACG = > ATG | T | 0.003 |
ADBR2 | 5q31-q32 | SNV | Arg16Gly (46A>G) | rs1042713 | Missense | -G/A | G | R[Arg] = > G[Gly] | AGA = > GGA | A | 0.47 |
ADRB2 | 5q31-q32 | SNV | Gln27Glu (79G>C) | rs1042714 | Missense | C/G | G | Q[Gln] = > E[Glu] | CAA = > GAA | G | 0.238 |
ADBR3 | 8p12-p11.1 | SNV | Try64Arg (5387 T > C) | rs4994 | Missense | C/T (rev) | C | W[Trp] = > R[Arg] | TGG = > CGG | Gb | 0.1 |
VEGFA | 6p 12 | SNV | 963C > T | rs3025039 | UTR-3 | C/T | G | na | na | T | 0.149 |
eNOS | 7q36 | SNV | Glu298Asp (894 T > G) | rs1799983 | Missense | G/T | G | E[Glu] = > D[Asp] | GAT = > GAG | T | 0.197 |
TH | 11p15.5 | SNV | Va181Met (7085G > A) | rs6356 | Missense | A/G (rev) | G | V]Val] = > M[Met] | GTG = > ATG | Tb | 0.419 |