General Databases | Disease and Mutations Databases | Population Databases | Tools

General Databases

Human Gene Mutation Database (HGMD)
Human Genome Variation Society (HGVS)
Leiden Open Variation Database (LOVD)
Locus Referece Genomic (LRG)

Disease and Mutation Databases

Eye Diseases - Ornithine aminotransferase (OAT) mutation database
AIREbase - Mutation registries for APECED
Autoimmune regulator (AIRE) mutation database
NCL Resource - A gateway for Batten disease
Retinal and hearing impairment genetic mutation database for Choroideremia (Rab escort protein 1) (CHM)
Retinal and hearing impairment genetic mutation database for Clarin 1 (CLRN1)
Usher syndrome databases
X-linked Retinoschisis sequence variation database

Population Databases

The Catalogue for Transmission Genetics in Arabs (CTGA) Database
Mutation Database of Turkish Population
Israeli Populations Database
Amish, Mennonite, and Hutterite Genetic Disorders Database
Japanese single nucleotide polymorphism database


NCBI Variation Reporter
Cafe Variome

FinDis has received funding from the Academy of Finland, Center of Excellence in Disease Genetics
and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.