| OMIM | • Online Mendelian Inheritance in Man - Catalog of human genes and genetic disorders |
| African Genome Variation Project |
| Amish, Mennonite, and Hutterite Genetic Disorder Database |
| Androgen Receptor Gene Mutations Database |
| CFTR2 | CFTR Variants cystic fibrosis (CF) gene |
| CFTR1 | Cystic Fibrosis Mutation Database |
| DECIPHER | DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources
Tools designed to aid the interpretation of genomic variants |
| dbGaP | Database of Genotypes and Phenotypes in humans |
| HbVar | Database of Human Hemoglobin Variants and Thalassemias |
| DisGeNET | Database of human disease-associated genes and variants |
| DVD | Deafness Variation Database |
| Disease Ontology - Standardized ontology for human diseases |
| EMMA | European Mouse Mutant Archive |
| FinDis | Finnish Disease Database |
| GAD | Genetic Association Database |
| FINDbase | Genome Variation Allele Frequencies Worldwide |
| HGMD | Human Gene Mutation Database |
| LOVD | Leiden Open Variation Database |
| LSDB | Locus-Specific Mutation Databases |
| MGMD | Mammalian Gene Mutation Database |
| Monarch initiative Identification of animal models of human disease through phenotypic similarity |
| MutationTaster |
| ClinVar | Public archive of reports of the relationships among human variations and phenotypes |
| Rare Disease Data Center |
| SNPs and genetic variations glossary |
| dbSNP | Short Genetic Variations |
| SNPedia | Wiki on SNPs and genome annotation |
