Table S9.
Family specific LOD scores for each kindred under the two-locus and single-locus models
| Kindred | LOD score, two-locus model | LOD score, single-locus model |
| Q78fs*41 | 0.65 | 0.27 |
| R345fs*194 | 0.16 | 0.63 |
| A353fs*187 | 0.97 | 0.57 |
| R281fs*13 | 0.57 | 0.30 |
| T306A | 0.66 | 0.30 |
| E374* | NA | NA |
| S130fs*146 | 0.30 | 0.30 |
| Q223* | 0.65 | 0.27 |
| P323L | 0.57 | 0.30 |
| G390C | NA | NA |
| E407* | 1.13 | 0.60 |
| R465C | 0.65 | 0.32 |
| I490T | 0.99 | 0.35 |
| M1R | 0.28 | 0.27 |
| R15* | 0.27 | 0.24 |
| I466F | 0.36 | 0.35 |
| G88fs*33 | NA | NA |
| P152fs*27 | NA | NA |
| Total lod score | 8.22 | 5.07 |
| Odds ratio in favor of linkage | 1.7 x 108:1 | 1.2 x 105:1 |
Maximum LOD scores under the parametric models specified above are shown for each kindred harboring a SMAD6 mutation. Kindreds with de novo mutation in the proband and one in which there was co-occurrence of SMAD6 and TCF12 LOFs are not informative for segregation (NA). The LOD score for the two-locus model is >1400× more likely than the single-locus model under the optimized models.