Table 1.
Name | Symbol | Location | Reference sequence |
Polymorphism (nucleotide) |
Polymorphism (amino acid) |
Reference SNP number (rs#) |
---|---|---|---|---|---|---|
Mitochondrially encoded 12S RNA |
MT-RNR1 | Mito. | NC_001807.4 | m.1555A>G | — | |
Myosin VI | MYO6 | 6q13 | NM_004999.3 | c.2417-87A>C | rs13211391 | |
Myosin VIIA | MYO7A | 11q13 | NM_000260.2 | c.46C>T | p.Ser16Leu | rs1052030 |
c.5859A>C | p.Ile1954Leu | rs948962 | ||||
Myosin XVA | MYO15A | 8q24 | NM_016239.2 | c.5928C>T | p.Arg1977Lys | rs854777 |
BDNF | BDNF | 11p13 | NM_001709.3 | c.195A>G | p.Val66Met | rs6265 |
Nitric oxide | NOS3 | 7q36 | NM_000603.3 | c.893G>T | p.Glu298Asp | rs1799983 |
synthase 3 (ENOS) | c.-813T>C* | rs2070744 | ||||
c.582+250N27 (4_5)** | — | |||||
GST Pi | GSTP1 | 11q13 | NM_000852.2 | c.312A>G | p.Ile105Val | rs1695 |
c.340C>T | p.Ala114Val | rs1138272 | ||||
GST M3 | GSTM3 | 1p13 | NM_000849.3 | c.468+21_22insAGG | rs1799735 | |
GST Zeta 1 | GSTZ1 | 14q24 | NM_145870.1 | c.94A>G | p.Lys32Glu | rs3177427 |
c.124A>G | p.Arg42Gly | rs7972 |
Abbreviations: SNP, single nucleotide polymorphism; BDNF, brain-derived neurotrophic factor; ENOS; endothelial nitric oxide synthase; GST, glutathione S-transferase.
often referred to as T-786C.
often referred to as the intron 4 variable nucleotide tandem repeat.