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. 2017 Aug 14;114(35):E7341–E7347. doi: 10.1073/pnas.1709255114

Table S8.

Parametric linkage of rare SMAD6 alleles to craniosynostosis under single locus and 2 locus models incorporating BMP2 risk alleles

Genotype (SMAD6; BMP2) Penetrance in two-locus model (SMAD6/BMP2) Penetrance in single-locus model (SMAD6)
+,D; C,C 1 0.12
+,D; C,T 0.85 0.12
+,D; T,T 0.07 0.12
+,+; C,C 0.0032 0.0032
+,+; C,T 0.0008 0.0008
+,+; T,T 0.0002 0.0002