HomozygoteGenotypeHeterozygotePolymorphism, GeneticGenetic VariationAllelesPolymorphism, Single NucleotideGenetic Predisposition to DiseaseGene FrequencyMutationPhenotypeMolecular Sequence DataHaplotypesCase-Control StudiesHemochromatosisBase SequencePolymerase Chain ReactionAmino Acid SequenceAlternative SplicingGenetic Association StudiesExonsPedigreeHeterozygote DetectionAmino Acid SubstitutionMutation, MissenseSequence Analysis, DNAPoint MutationGenome-Wide Association StudyPolymorphism, Restriction Fragment LengthDNA Mutational AnalysisAsian Continental Ancestry GroupEuropean Continental Ancestry GroupGenes, LethalRisk FactorsGenes, RecessiveApolipoprotein E2Mice, Mutant StrainsMethylenetetrahydrofolate Reductase (NADPH2)Catechol O-MethyltransferaseGenetic TestingChromosome MappingDNA PrimersProtein IsoformsModels, GeneticHemoglobins, AbnormalAlbinismHyperlipoproteinemia Type IICrosses, GeneticGenetic MarkersDNAGenetic LinkagePromoter Regions, GeneticRNA, MessengerMembrane ProteinsCohort StudiesGenes, DominantCell LineHair ColorGenetics, PopulationIntronsCloning, MolecularOdds RatioGenotyping TechniquesHyperlipoproteinemia Type IIILinkage DisequilibriumSequence DeletionApolipoproteins EHemoglobin ECodonHistocompatibility Antigens Class IExomeAtaxia TelangiectasiaValineGenesGene DeletionAge of OnsetChinaAngina Pectoris, VariantCarrier ProteinsJewsGaucher DiseaseApolipoproteins ARiskAryl Hydrocarbon HydroxylasesSelection, GeneticGenetic LociSequence AlignmentOxidoreductases Acting on CH-NH Group DonorsGene ExpressionThalassemiaalpha 1-Antitrypsin DeficiencyFerritinsGenome, HumanDNA-Binding ProteinsReverse Transcriptase Polymerase Chain ReactionReference ValuesSerotonin Plasma Membrane Transport ProteinsPharmacogeneticsElectrophoresis, Starch GelSequence Homology, Amino Acid