a database and web server of human whole-genome…
a database and web server of human whole-genome single nucleotide variants…
dbWGFP
A database and web server of human whole-genome single nucleotide variants and their…
A database and web server of human whole-genome single nucleotide variants and their functional predictions. dbWGFP collects nearly 8.58 billion possible SNVs across the whole human genome, with each SNV described by 48 functional prediction scores…
Cafe Variome
Cafe Variome
A complete data sharing solution designed to allow diagnostic/disease networks to share…
A complete data sharing solution designed to allow diagnostic/disease networks to share variant data between one another, for example to check for the existence of variant found in a patient in another laboratory they know/trust. Cafe Variome offers…
Canadian Open Genetics Repository
Canadian Open Genetics Repository
COGR
A unified, open-access, clinical-grade genetic database that draws from the genetic…
A unified, open-access, clinical-grade genetic database that draws from the genetic holdings in place at clinical labs and hospitals across Canada. As clinical laboratories adopt modern genomics technologies, the need for this type of collaborative…
ClinVar
ClinVar
A freely available archive for interpretations of clinical significance of variants for…
A freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing…
Copy Number Variation in Disease
Copy Number Variation in Disease
CNVD
A systematic and comprehensive database for copy number variations and related diseases,…
A systematic and comprehensive database for copy number variations and related diseases, in which all the records were manually extracted from experimental data published in CNV-related articles. Hence, CNVD database is a reliable and comprehensive…
database of Deleterious Synonymous Mutation
database of Deleterious Synonymous Mutation
dbDSM
Collects, curates and manages available human disease-related SM data obtained from…
Collects, curates and manages available human disease-related SM data obtained from published literature. In the current release, dbDSM collects 1936 SM-disease association entries, including 1289 SMs and 443 human diseases from ClinVar, GRASP, GWAS…
DatabasE of Genomic variants and Phenotype in…
DatabasE of Genomic variants and Phenotype in Humans Using Ensembl…
DECIPHER
An accessible online repository of genetic variation with associated phenotypes that…
An accessible online repository of genetic variation with associated phenotypes that facilitates the identification and interpretation of pathogenic genetic variation in patients with rare disorders. Contributing to DECIPHER is an international…
Disease Variant Store
Disease Variant Store
DIVAS
Provides information on genetic variants observed in various disease populations. We have…
Provides information on genetic variants observed in various disease populations. We have gathered several large studies, including GERA and GRU, and computed population- and disease-specific genetic variant frequencies. In total, our portal…
European Genome-phenome Archive
European Genome-phenome Archive
EGA
A permanent archive that promotes the distribution and sharing of genetic and phenotypic…
A permanent archive that promotes the distribution and sharing of genetic and phenotypic data consented for specific approved uses but not fully open, public distribution. The EGA follows strict protocols for information management, data storage,…
Exome Variant Server
Exome Variant Server
The NHLBI Exome Sequencing Project (ESP) is focused on understanding the contribution of…
The NHLBI Exome Sequencing Project (ESP) is focused on understanding the contribution of rare genetic variation to heart, lung and blood disorders through the sequencing of well-phenotyped populations. Variant count data are available on the Exome…
GeneMatcher
GeneMatcher
A freely accessible web-based tool developed as part of the Baylor-Hopkins Center for…
A freely accessible web-based tool developed as part of the Baylor-Hopkins Center for Mendelian Genomics. The goal of GeneMatcher is to identify additional individuals with rare phenotypes who had variants in the same candidate disease gene. It also…
GeneReviews
GeneReviews
A collection of peer-reviewed inherited disease descriptions written by experts with…
A collection of peer-reviewed inherited disease descriptions written by experts with extensive and thoughtful editing. It contains phenotypic information and information on selected variants, and its strength is in the clinical summaries it offers.…
Genome Trax
Genome Trax
A comprehensive compilation of variant knowledge that is made available for download for…
A comprehensive compilation of variant knowledge that is made available for download for easy integration into your own custom variant analysis pipeline for human whole genome, exome and targeted sequences. With Genome Trax™ content you can…
Human Gene Mutation Database
Human Gene Mutation Database
HGMD
Represents an attempt to collate known (published) gene lesions responsible for human…
Represents an attempt to collate known (published) gene lesions responsible for human inherited disease. HGMD® has been an essential tool in analyzing the genomes of thousands of individuals and is widely used in genetics and genomics research…
HUMSAVAR
HUMSAVAR
An index of human polymorphisms and disease mutations. In release 2015_08 of July 2015,…
An index of human polymorphisms and disease mutations. In release 2015_08 of July 2015, the total number of single amino acid variants annotated in UniProtKB/Swiss-Prot was 71,795. All are listed in the file humsavar.txt. This document also…
IGVBrowser
IGVBrowser
Provides allele and genotype frequency data generated in the Indian Genome Variation…
Provides allele and genotype frequency data generated in the Indian Genome Variation Consortium (IGVC) project. The database harbors 4,229 SNPs from more than 900 candidate genes in contrasting Indian populations. Analysis shows that most of the…
Leiden Open Variation Database
Leiden Open Variation Database
LOVD
Provide a flexible, freely available tool for Gene-centered collection and display of DNA…
Provide a flexible, freely available tool for Gene-centered collection and display of DNA variations. LOVD 3.0 extends this idea to also provide patient-centered data storage and storage of NGS data, even of variants outside of genes. LOVD allows…
Locus-Specific DataBases
Locus-Specific DataBases
LSDBs
Store information on gene sequence variation associated with human phenotypes and are…
Store information on gene sequence variation associated with human phenotypes and are frequently used as a reference by researchers and clinicians. Their most frequent use is in relation to DNA-based diagnostics, giving clinicians and scientists…
Matchmaker Exchange Application Programming…
Matchmaker Exchange Application Programming Interface
MME API
A protocol and data format for exchanging phenotype and genotype profiles to enable…
A protocol and data format for exchanging phenotype and genotype profiles to enable matchmaking among patient databases, facilitate the identification of additional cohorts, and increase the rate with which rare diseases can be researched and…
Online Mendelian Inheritance in Man
Online Mendelian Inheritance in Man
OMIM
A comprehensive, authoritative and timely research resource of curated descriptions of…
A comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. OMIM® is based on the published peer-reviewed biomedical literature and is used by overlapping and…
PhenoDB
PhenoDB
A robust, useful database for collection, storage, and analysis of phenotypic data,…
A robust, useful database for collection, storage, and analysis of phenotypic data, especially in the context of whole exome/genome sequencing approaches to identify the responsible gene and variant. The phenotypic features are organized…
PhenomeCentral
PhenomeCentral
A repository for secure data sharing targeted to clinicians and scientists working in the…
A repository for secure data sharing targeted to clinicians and scientists working in the rare disorder community. PhenomeCentral encourages global scientific collaboration while respecting the privacy of patients profiled in this centralized…
Phenotypes for ENCODE
Phenotypes for ENCODE
PhenCode
A collaborative, exploratory project to help understand phenotypes of human mutations in…
A collaborative, exploratory project to help understand phenotypes of human mutations in the context of sequence and functional data from genome projects. PhenCode connects human phenotype and clinical data in various locus-specific databases…
PTM-SNP
PTM-SNP
Contains a comprehensive collection of human non-synonymous SNPs (nsSNPs) that affect…
Contains a comprehensive collection of human non-synonymous SNPs (nsSNPs) that affect post-translational modification (PTM) sites, together with disease information. Total 179,325 PTM-SNPs were collected by aligning missense SNPs and stop-gain SNPs…