Variants penetrance. Medical search. Frequent questions

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Anatomy5

Cell Line Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 1

Organisms3

Mice, Inbred C57BL Mice, Transgenic Mice, Mutant Strains

Diseases28

Genetic Predisposition to Disease Optic Atrophy, Hereditary, Leber Hirschsprung Disease Genetic Diseases, Inborn Syndrome Dystonia Musculorum Deformans Dystonia Amyloid Neuropathies, Familial Breast Neoplasms Hemochromatosis Abnormalities, Multiple Angiomatosis Syndactyly Craniofacial Abnormalities Neoplastic Syndromes, Hereditary Ovarian Neoplasms Retinoblastoma Disease Models, Animal Myoclonus Cardiomyopathy, Hypertrophic, Familial Retinitis Pigmentosa Dystonic Disorders Optic Atrophies, Hereditary Angina Pectoris, Variant Eye Abnormalities Amyloid Neuropathies Paraganglioma, Extra-Adrenal Cleft Palate

Chemicals and Drugs18

Genetic Markers BRCA2 Protein Protein Isoforms Prealbumin DNA, Mitochondrial Transcription Factors RNA, Messenger Proto-Oncogene Proteins c-ret DNA Primers Bone Morphogenetic Protein Receptors, Type II DNA RNA, Transfer, Ile Receptor, Melanocortin, Type 1 DNA-Binding Proteins Neoplasm Proteins NADH Dehydrogenase Codon, Nonsense Homeodomain Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment19

Pedigree DNA Mutational Analysis Genetic Testing Models, Genetic Chromosome Mapping Sequence Analysis, DNA Case-Control Studies Genetic Association Studies Genome-Wide Association Study Amino Acid Substitution Polymerase Chain Reaction Heterozygote Detection Crosses, Genetic Risk Factors Likelihood Functions Disease Models, Animal Cohort Studies Sequence Alignment Risk

Psychiatry and Psychology1

Phenomena and Processes54

Penetrance Genetic Variation Mutation Genetic Predisposition to Disease Phenotype Genotype Genes, Dominant Heterozygote Alleles Polymorphism, Single Nucleotide Genetic Linkage Haplotypes Gene Frequency Lod Score Germ-Line Mutation Mutation, Missense Base Sequence Homozygote Alternative Splicing Genes, BRCA1 Amino Acid Sequence Genes, Modifier Founder Effect Exons Genetic Heterogeneity Genes, Recessive Genetic Markers Amino Acid Substitution Exome Genes, BRCA2 Polymorphism, Genetic Point Mutation Epistasis, Genetic Genetic Loci Inheritance Patterns DNA Copy Number Variations Genome, Human Chromosomes, Human, Pair 19 Sequence Deletion Microsatellite Repeats Gene Expression Polymorphism, Single-Stranded Conformational Multifactorial Inheritance Gene Deletion Chromosomes, Human, Pair 2 Introns Hair Color Risk Chromosomes, Human, Pair 10 Consanguinity Haploinsufficiency Chromosomes, Human, Pair 1 Quantitative Trait Loci Codon, Nonsense

Disciplines and Occupations2

Genetic Counseling Genetics, Medical

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups3

Jews Asian Continental Ancestry Group European Continental Ancestry Group

Health Care10

Genetic Testing Family Health Age of Onset Case-Control Studies Genome-Wide Association Study Genetic Counseling Risk Factors Likelihood Functions Cohort Studies Risk

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care

Penetrance Pedigree Genetic Variation Mutation Genetic Predisposition to Disease Phenotype Genotype Genes, Dominant Heterozygote Alleles Polymorphism, Single Nucleotide Genetic Linkage Molecular Sequence Data Haplotypes Gene Frequency DNA Mutational Analysis Lod Score Optic Atrophy, Hereditary, Leber Genetic Testing Models, Genetic Germ-Line Mutation Family Health Mutation, Missense Base Sequence Homozygote Chromosome Mapping Alternative Splicing Age of Onset Genes, BRCA1 Amino Acid Sequence Genes, Modifier Founder Effect Exons Hirschsprung Disease Sequence Analysis, DNA Case-Control Studies Genetic Heterogeneity Genetic Association Studies Genes, Recessive Genome-Wide Association Study Jews Genetic Diseases, Inborn Genetic Markers Amino Acid Substitution Exome Polymerase Chain Reaction Genes, BRCA2 Family Syndrome Polymorphism, Genetic Heterozygote Detection Point Mutation Dystonia Musculorum Deformans BRCA2 Protein Crosses, Genetic Protein Isoforms Dystonia Amyloid Neuropathies, Familial Prealbumin Epistasis, Genetic Breast Neoplasms Genetic Counseling Asian Continental Ancestry Group Genetic Loci DNA, Mitochondrial Inheritance Patterns Risk Factors Likelihood Functions DNA Copy Number Variations Transcription Factors Hemochromatosis Abnormalities, Multiple RNA, Messenger Proto-Oncogene Proteins c-ret DNA Primers Cell Line Mice, Inbred C57BL Genome, Human European Continental Ancestry Group Angiomatosis Genetics, Medical Mice, Transgenic Chromosomes, Human, Pair 19 Sequence Deletion Syndactyly Craniofacial Abnormalities Microsatellite Repeats Neoplastic Syndromes, Hereditary Gene Expression Ovarian Neoplasms Polymorphism, Single-Stranded Conformational Retinoblastoma Disease Models, Animal Multifactorial Inheritance Myoclonus Bone Morphogenetic Protein Receptors, Type II DNA Cardiomyopathy, Hypertrophic, Familial RNA, Transfer, Ile Receptor, Melanocortin, Type 1

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