Table 1.
Genotyping on selected SNPs in the members of Family 1b.
| Ch. | Gene | Change (nt) | MAF | Variant | Change (aa) |
Family 1b | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| II2 | II3 | III1 | III2 | III3 | IV1 | IV2 | ||||||
| 9 |
ABO rs8176719 |
−/G | G (0.379) |
c.261delG | − | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| 11 |
F2 rs1799963 |
G > A | A (0.0135) |
3′ UTR | − | GG | GG | GG | GG | GG | GG | GG |
| 1 |
F5 rs6025 |
G > A | A (0.025) |
Missense | R506Q | GA | GG | GA | GA | GA | GA | GA |
| 1 |
F5 rs1800595 |
A > G | G (0.0485) |
Missense | H1299R | AA | AA | AA | AA | AA | AA | AG |
| 1 |
F5 rs4524 |
T > C | C (0.267) |
Missense | K830R | TC | TT | TT | TT | TT | TT | TC |
| 4 |
F11 rs2289252 |
G > A | A (0.399) |
Intron | − | AA | AA | AG | AA | AA | AA | AA |
| 4 |
F11 rs2036914 |
G > A | A (0.479) |
Intron | − | GG | GG | GA | GG | GG | GG | GG |
| 5 |
F12 rs1801020 |
G > A | A (0.237) |
5′ UTR | − | GG | GA | GA | GA | GA | GA | GA |
| 6 |
F13A1 rs5985 |
G > T | T (0.243) |
Missense | V34L | GG | GT | GG | GT | GT | GT | GT |
| 1 |
SERPINE10 rs2232698 |
G > A | A (0.0077) |
Stop Gained | R67 * | GG | GG | GG | GG | GG | GG | GG |
| 1 |
SERPINC1 rs121909548 |
G > T | T (0.0015) |
Missense | A384S | GG | GG | GG | GG | GG | GG | GG |
| 4 |
FGG rs2066865 |
C > T | T (0.23) |
near 3′UTR | − | CC | CC | CC | CC | CC | CC | CC |
| 3 |
KNG1 rs710446 |
T > C | C (0.419) |
Missense | I581T | TC | TC | TT | CC | TC | TC | TC |
Ch.: Chromosome; MAF: Minor Allele Frequency; G/G or −/G: likely to have blood type A or B; −/−: likely to have blood type O; the asterisk (*): indicates a translation termination codon (gained stop codon). The minor allele is shown in bold.