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GENETIC VARIATIONS


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NCBI SNPs logo
Subcategories: ncbi

Search for SNPs on NCBI Reference Assembly

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HapMap Project logo
Subcategories: ncbi

The human haplotype map project (HapMap) is is a multinational effort to catalog genetic differences in humans. A partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals.

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GeneSNPs logo

Gene SNP is part of the Environmental Genome Project (from NIESH) web resource that integrates gene, sequence and polymorphism data into individually annotated gene models. The human genes included are related to DNA repair, cell cycle control, cell signaling, cell division, homeostasis and metabolism, and are thought to play a role in susceptibility to environmental exposure.

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V&D logo

VnD (Variations and Drugs)is a consolidated database containing information on diseases, disease and drug related genes, genetic variations, protein structures, and drug information, to understand the trilateral relationship among genomic variations, diseases, and drugs.

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HaploReg logo

HaploReg is a tool for exploring annotations of the noncoding genome at variants on haplotype blocks, such as candidate regulatory SNPs at disease-associated loci. It brings together data from chromatin-mapping and comparative-genomics studies. Researchers can enter common variants and see whether they fall in a highly conserved region, disrupt a regulatory motif or are associated with a regulatory element in a particular cell type. It provides the same information for common variants that tend

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dbSNP-Q logo

dbSNP-Q is a tool for querying human data from the dbSNP relational database. The purpose is to retrieve data in a tabular format for a variety tasks such as genomic mapping, SNP/gene functional properties and allele frequency data, as well as information on the underlying experiments.

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PolyPhen-2 logo

PolyPhen-2 (Polymorphism Phenotyping v2) is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations.

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Environmental Genome Project logo

The long-term goal of the Environmental Genome Project (EGP) form NIESH is to characterize how specific human genetic variations, or polymorphisms, contribute to environmentally induced disease susceptibility. The EGP identified a group of human genes that are likely to influence the outcome of environmental exposures.

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eMERGE Network logo

The Electronic Medical Records and Genomics (eMERGE) Network primary goal is to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record systems for large-scale, high-throughput genetic research (GWAS). In addition, the consortium includes a focus on social and ethical issues such as privacy, confidentiality, and interactions with the broader community.eMERGE is a NIH-organized and funded consortium of U.S. medical research institutio

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Genome-Wide Association (GWA) Studies logo

The genome-wide association study (GWAS) publications listed in this catalog establish genetic associations between hundreds of genomic loci and complex (multigenic)traits, many of them diseases. Only those attempting to assay at least 100,000 single nucleotide polymorphisms (SNPs) in the initial stage, are included here.

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OMIM logo

An Online Catalog of Human Genes and Genetic Disorders

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SIFT logo

SIFT (Sorting Intolerant From Tolerant) predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids. SIFT can be applied to naturally occurring nonsynonymous polymorphisms and laboratory-induced missense mutations.

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Mitochondrial Mutation Databases logo

Mitochondrial Mutation Databases (HGV)

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1000 Genomes Browser logo

It's a dedicated 1000 Genomes browser based on the Ensembl infrastructure in the context of extensive genome annotation, such as protein-coding genes and whole-genome regulatory information. The browser displays project variants before they are processed by dbSNP or appear in genome resources such as Ensembl or the University of California Santa Cruz (UCSC) genome browser. The 1000 Genomes browser also provides Ensembl variation tools including the Variant Effect Predictor (VEP)12 as well as ‘

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Genetic association database logo

The Genetic Association Database (NIH) is an archive of human genetic association studies of complex diseases and disorders. The goal of this database is to allow the user to rapidly identify medically relevant polymorphism from the large volume of polymorphism and mutational data, in the context of standardized nomenclature.

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SNPedia logo

SNPedia is a wiki investigating human genetics. SNPedia shares information about the effects of variations in DNA, citing peer-reviewed scientific publications. It is used by Promethease to analyze and help explain your DNA

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Locus Specific Mutation Databases logo

A site maintained by the Human Genome Variation Society (HGV)

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Leiden Open Variation Database LOVD logo

LOVD provides a flexible, freely available tool for Gene-centered collection and display of DNA variations.

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ALFRED logo

ALFRED has been designed to make allele frequency data on anthropologically defined human population samples readily available to the scientific community and to link these polymorphism data to the molecular genetics-human genome databases.ALFRED's focus is on allele frequencies in diverse anthropologically defined populations. It is not a compendium of human DNA polymorphisms but of frequencies of selected polymorphisms with an emphasis on those that have been studied in multiple populations.

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RegulomeDB logo

RegulomeDB identifies binding sites and other elements in non-coding DNA.

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