From: Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study
Position1 | Nucleotide variation2 | Amino acid substitution | Domain location | dbSNP ID | Sequencing analysis3 | Number of variant carriers4 | |||
---|---|---|---|---|---|---|---|---|---|
Mother | Infant | ||||||||
Case | Control | Case | Control | ||||||
8809843 | +31C>T | A11T | END |  | Case–control (P2) | 1 (D) | 0 | 0 | 0 |
8809741 | +133C>A | V45L | TMD 1 |  | Case–control (P2) | 0 | 2 (D) | 0 | 0 |
8809552 | +322G>C | P108A | ECL 1 | rs202138705 | Case–control (P2), MT | 1 (F) | 0 | 0 | 0 |
8809446 | +428T>C | Q143R | ICL 2 | Â | MT | Â | Â | Â | Â |
8809359 | +515A>G | V172A | TMD 4 | rs115324487 | Case–control (P1 and P2), MT | 7 (A, U) | 0 | 5 (A, U) | 0 |
8809267 | +607A>G | W203R | ECL 2 | rs200498154 | Case–control (P1) | 0 | 0 | 1 (U) | 0 |
8809258 | +616G>C | L206V5 | TMD 5 | rs150746704 | Case–control (P1 and P2) | 2 (U) | 0 | 3 (A, U) | 0 |
8809243 | +631C>A | V211L | TMD 5 |  | Case–control (P2) | 1 (D) | 1 (D) | 0 | 0 |
8809222 | +652C>T | A218T | TMD 5 | rs4686302 | All | Â | Â | Â | Â |
8809184 | +690G>A | N230N | ICL 3 | rs237902 | All | Â | Â | Â | Â |
8809162 | +712C>T | A238T | ICL 3 | rs61740241 | All | Â | Â | Â | Â |
8809150 | +724C>G | E242Q | ICL 3 | Â | MT | Â | Â | Â | Â |
8809133 | +741C>T | A247A | ICL 3 |  | Case–control (P2) | 2 (D) | 1 (D) | 0 | 0 |
8809119 | +755C>G | G252A | ICL 3 | rs151141371 | Case–control (P2), MT | 3 (D) | 2 (D, F) | 0 | 0 |
8809033 | +841C>T | V281M | TMD 6 | rs144814761 | Case–control (P2) | 1 (D) | 0 | 0 | 0 |
8809024 | +850A>G | F284L6 | TMD 6 | rs201783860 | Case–control (P2) | 1 (U) | 0 | 0 | 0 |