Links

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

General Databases

Human Gene Mutation Database (HGMD)
http://hgmd.cf.ac.uk/ac/index.php
Human Genome Variation Society (HGVS)
hgvs.org
Leiden Open Variation Database (LOVD)
http://lovd.org
Locus Referece Genomic (LRG)
http://lrg-sequence.org
OMIM
http://www.ncbi.nlm.nih.gov/omim/
NCBI dbSNP
http://www.ncbi.nlm.nih.gov/snp/

Disease and Mutation Databases

Eye Diseases - Ornithine aminotransferase (OAT) mutation database
http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=OAT
AIREbase - Mutation registries for APECED
http://www.uta.fi/imt/bioinfo/AIREbase/
Autoimmune regulator (AIRE) mutation database
https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=AIRE
NCL Resource - A gateway for Batten disease
http://www.ucl.ac.uk/ncl/
Retinal and hearing impairment genetic mutation database for Choroideremia (Rab escort protein 1) (CHM)
https://grenada.lumc.nl/LOVD2/Usher_montpellier/home.php?select_db=CHM
Retinal and hearing impairment genetic mutation database for Clarin 1 (CLRN1)
https://grenada.lumc.nl/LOVD2/Usher_montpellier/home.php?select_db=CLRN1
Usher syndrome databases
https://grenada.lumc.nl/LOVD2/Usher_montpellier/USHbases.html
X-linked Retinoschisis sequence variation database
http://www.dmd.nl/rs/

Population Databases

The Catalogue for Transmission Genetics in Arabs (CTGA) Database
http://www.cags.org.ae/index.html
Mutation Database of Turkish Population
http://hmut-tr.sourceforge.net
Israeli Populations Database
http://www.tau.ac.il/medicine/NLGIP/nlgip.htm
Amish, Mennonite, and Hutterite Genetic Disorders Database
http://www.biochemgenetics.ca/plainpeople/index.php
Japanese single nucleotide polymorphism database
http://snp.ims.u-tokyo.ac.jp/index.html

Tools

Mutalyzer
https://mutalyzer.nl/index
NCBI Variation Reporter
http://www.ncbi.nlm.nih.gov/variation/tools/reporter/
Cafe Variome
http://cafevariome.org



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.