---
-
data_types:
- variation
description: Variants (including SNPs and indels) imported from dbSNP
name: dbSNP
somatic_status: mixed
url: http://www.ncbi.nlm.nih.gov/projects/SNP/
version: 156
-
data_types:
- variation_synonym
description: Former dbSNP variant names, merged by variant
name: Archive dbSNP
somatic_status: mixed
url: http://www.ncbi.nlm.nih.gov/projects/SNP/
version: 156
-
data_types:
- variation_synonym
description: HGVS annotation from dbSNP
name: dbSNP HGVS
somatic_status: mixed
url: http://www.ncbi.nlm.nih.gov/projects/SNP/
version: 156
-
data_types:
- variation_synonym
description: Former dbSNP variant names, merged by allele
name: Former dbSNP
somatic_status: mixed
url: http://www.ncbi.nlm.nih.gov/projects/SNP/
version: 156
-
data_types:
- variation_synonym
description: A pharmacogenomics knowledge resource
name: PharmGKB
somatic_status: germline
url: https://www.pharmgkb.org/
version: 14/10/2024
-
data_types:
- variation
- phenotype_feature
description: Variants from HGMD-PUBLIC dataset December 2020
name: HGMD-PUBLIC
somatic_status: germline
url: http://www.hgmd.cf.ac.uk/ac/index.php
version: '2020.4'
-
data_types:
- structural_variation
- phenotype_feature
- study
description: Database of Genomic Variants Archive
name: DGVa
somatic_status: mixed
url: https://www.ebi.ac.uk/dgva/
version: 01/2020
-
data_types:
- phenotype_feature
- study
description: Variants associated with phenotype data from the NHGRI-EBI GWAS catalog
name: NHGRI-EBI GWAS catalog
somatic_status: germline
url: https://www.ebi.ac.uk/gwas/
version: 09/10/2024
-
data_types:
- study
description: Variants imported from the European Genome-phenome Archive with phenotype association
name: EGA
somatic_status: germline
url: https://www.ebi.ac.uk/ega/
version: 10/2024
-
data_types:
- variation_synonym
description: Variants with protein annotation imported from UniProt
name: UniProt
somatic_status: mixed
url: http://www.uniprot.org/
version: 14/10/2024
-
data_types:
- variation_synonym
description: Variants linked to entries in the Online Mendelian Inheritance in Man (OMIM) database [imported via ClinVar]
name: OMIM
somatic_status: germline
url: http://www.omim.org/
version: 09/2024
-
data_types:
- structural_variation
description: Variants from the Illumina Cyto SNP-12 v1 whole genome SNP genotyping chip designed for cytogenetic analysis
name: Illumina_CytoSNP12v1
somatic_status: germline
type: chip
url: http://www.illumina.com/
version: 1
-
data_types:
- structural_variation
description: Variants from the Illumina Human 660W-Quad whole genome SNP genotyping chip designed for association studies
name: Illumina_Human660W-quad
somatic_status: germline
type: chip
url: http://www.illumina.com/
-
data_types:
- structural_variation
description: Variants from the Illumina Human 1M-Duo v3 whole genome SNP genotyping chip designed for association studies
name: Illumina_Human1M-duo
somatic_status: germline
type: chip
url: http://www.illumina.com/
version: 3
-
data_types:
- structural_variation
description: Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
name: Affy GenomeWideSNP_6 CNV
somatic_status: germline
type: chip
url: http://www.affymetrix.com/
-
data_types:
- variation
- variation_synonym
- phenotype_feature
description: Somatic mutations found in human cancers from the COSMIC catalogue
name: COSMIC
somatic_status: somatic
url: https://cancer.sanger.ac.uk/cosmic/
version: 100
-
data_types:
- variation
- variation_synonym
- phenotype_feature
description: Variants of clinical significance imported from ClinVar
name: ClinVar
somatic_status: germline
url: https://www.ncbi.nlm.nih.gov/clinvar/
version: 09/2024
-
data_types:
- phenotype_feature
description: Genotype-to-Phenotype Database
name: DDG2P
somatic_status: germline
url: https://www.ebi.ac.uk/gene2phenotype
version: 21/10/2022
-
data_types:
- phenotype_feature
description: The Genetic Investigation of ANthropometric Traits (GIANT) consortium is an international collaboration that seeks to identify genetic loci that modulate human body size and shape, including height and measures of obesity.
name: GIANT
somatic_status: germline
url: http://www.broadinstitute.org/collaboration/giant/index.php/Main_Page
version: 1
-
data_types:
- phenotype_feature
description: Online Mendelian Inheritance in Man (OMIM) database
name: MIM morbid
somatic_status: germline
url: https://www.omim.org/
version: 23/10/2024
-
data_types:
- phenotype_feature
description: The portal for rare diseases and drugs
name: Orphanet
somatic_status: germline
url: https://www.orpha.net/
version: 01/07/2024
-
data_types:
- phenotype_feature
description: MAGIC (the Meta-Analyses of Glucose and Insulin-related traits Consortium) represents a collaborative effort to combine data from multiple GWAS to identify additional loci that impact on glycemic and metabolic traits
name: MAGIC
somatic_status: germline
url: http://www.magicinvestigators.org/
version: 1
-
data_types:
- variation_synonym
description: A Database of Human Hemoglobin Variants and Thalassemias
name: HbVar
somatic_status: germline
type: lsdb
url: http://globin.bx.psu.edu/hbvar/menu.html
-
data_types:
- variation_synonym
description: Leiden Muscular Dystrophy Database
name: LMDD
somatic_status: germline
type: lsdb
url: http://www.dmd.nl/
-
data_types:
- phenotype_feature
- study
description: The database of Genotypes and Phenotypes.
name: dbGaP
somatic_status: germline
url: http://www.ncbi.nlm.nih.gov/gap
version: 05/2014
-
data_types:
- phenotype_feature
- study
description: The AMD Gene consortium is an international collaboration that seeks to identify genetic loci associated with age-related macular degeneration .
name: AMDGC
somatic_status: germline
url: http://www.sph.umich.edu/csg/abecasis/public/amdgene2012/
version: 1
-
data_types:
- phenotype_feature
description: The GEnetic Factors for OSteoporosis Consortium international collaboration that seeks to identify common risk gene variants for osteoporosis
name: GEFOS
somatic_status: germline
url: http://www.gefos.org
version: 1
-
data_types:
- phenotype_feature
description: Biological, clinical and population relevance of 95 loci for blood lipids
name: Teslovich
somatic_status: germline
url: http://www.sph.umich.edu/csg/abecasis/public/lipids2010/
version: 1
-
data_types:
- phenotype_feature
- study
description: Catalog of genes of which mutations have been causally implicated in cancer
name: Cancer Gene Census
somatic_status: somatic
url: https://cancer.sanger.ac.uk/census
version: 10/2024
-
data_types:
- structural_variation
- phenotype_feature
- study
description: NCBI database of human genomic structural variation
name: dbVar
somatic_status: mixed
url: https://www.ncbi.nlm.nih.gov/dbvar/
version: 10/2023
-
data_types:
- variation_synonym
description: PhenCode is a collaborative project to better understand the relationship between genotype and phenotype in humans
name: PhenCode
somatic_status: germline
url: http://phencode.bx.psu.edu/
-
data_types:
- variation_synonym
description: Osteogenesis Imperfecta Variant Database
name: OIVD
somatic_status: germline
url: https://oi.gene.le.ac.uk/home.php
-
data_types:
- variation_synonym
description: dbPEX, PEX Gene Database
name: dbPEX
somatic_status: germline
url: http://www.dbpex.org/home.php?select_db=PEX1
-
data_types:
- variation_synonym
description: K(lysine) acetyltransferase 6B database, BCM
name: KAT6BDB
somatic_status: germline
url: https://grenada.lumc.nl/LOVD2/BCM/home.php?select_db=KAT6B
-
data_types:
- variation_synonym
description: "The registry of Hereditary Auto-inflammatory Disorders Mutations "
name: Infevers
somatic_status: germline
url: http://infevers.umai-montpellier.fr/web/
-
data_types:
- variation_synonym
description: Phenylalanine hydroxylase database
name: PAHdb
somatic_status: germline
url: http://www.pahdb.mcgill.ca/
-
data_types:
- phenotype_feature
description: Genotype-to-Phenotype Database
name: G2P
somatic_status: germline
url: https://www.ebi.ac.uk/gene2phenotype
version: 23/10/2024