causes or contributes to condition contributes to genotype causes or contributes to molecular phenotype Sickle Cell Disease-SS Hemoglobin S Sickle Cell Trait Sickle Cell Disease-SC Sickle Cell Disease-S/D-Punjab Sickle Cell Disease-SE Sickle Cell Disease-S/Lepore Boston Sickle Cell Disease-S/O-Arab Sickle Cell Disease-S/HPFH SCD Causal Mutation HBB, GLU6VAL Glu6Val E6V Request inclusion into relevant ontology The glutamic acid in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by valine. http://www.bloodjournal.org/content/bloodjournal/46/3/363.full.pdf?sso-checked=true Sickle Cell Mutation Negligable Beta S Mutation Hemoglobin Genotype SC Hemoglobin Genotype S/D-Punjab Hemoglobin Genotype S/O-Arab Hemoglobin Genotype SE Hemoglobin Genotype SS Hemoglobin Genotype SD Hemoglobin Genotype S/C-Harlem Hemoglobin C-Harlem Sickle Cell Disease-S/C-Harlem Hemoglobin Genotype S/Beta Zero Thalassaemia Hemoglobin Genotype S/HPFH Hemoglobin Genotype S/Lepore Boston Hemoglobin Genotype A/Jamaica Plain Hemoglobin Jamaica Plain Hemoglobin S-Antilles Hemoglobin S-Oman Hemoglobin Genotype A/S-Oman Hemoglobin Genotype C/S Antilles Hemoglobin S-South End Hemoglobin Genotype S/Quebec-Chori Sickle Cell Disease-S/Quebec Chori Hemoglobin Genotype S/S-South End Sickle Cell Disease-S/S-South End Hemoglobin Genotype S/Beta Thalassemia Hemoglobin Genotype S/Beta Minus Thalassaemia Hemoglobin Genotype AS Sickle Cell Disease A/Jamaica Plain Sickle Cell Disease A/S-Oman Sickle Cell Disease C/S Antilles Hemoglobin C-Harlem Disease