Table 2: Databases containing information on the prevalence of genetic variation

Information on these or any other internet-based resources of gene-disease association data should be emailed to databases@hugenet.org.uk

Name of Website

Website URL

HCForum inherited structural abnormalities of chromosomes

https://hcforum.imag.fr/H_PrincipaleAccueil_A/presentation.html

Serpin Database

http://www-structmed.cimr.cam.ac.uk/serpins.html

rSNP

http://wwwmgs.bionet.nsc.ru/mgs/systems/rsnp

Chromosomal Variation in man

http://www.wiley.com/legacy/products/subject/life/borgaonkar/

VBASE2

http://www.vbase2.org/

The Cardiff-Rotterdam Tuberous Sclerosis Mutation Database

http://www.uwcm.ac.uk/uwcm/mg/tsc_db/

KGDB (Human Kidney Gene Database)

http://www.ucsf.edu/urogene/kgdb/index.htm

Database of genetic variants in patients with chronic pancreatitis

http://www.uni-leipzig.de/pancreasmutation/

STR database

http://www.uni-duesseldorf.de/WWW/MedFak/Serology/dna.html

UMD (Universal Mutation Database)

http://www.umd.necker.fr/

Neuronal Ceriod lipofuscinoses NCL mutations

http://www.ucl.ac.uk/ncl

Propionyl CoA Carboxylase Page

http://www.uchsc.edu/sm/cbs/pcc/pccmain.html

LongQTsyndrome

http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm

Cloned and/or Mapped Genes Causing Retinal Disease

http://www.sph.uth.tmc.edu/Retnet/disease.htm

SNPproject

http://www.snps3d.org/

The Cancer Genome Project

http://www.sanger.ac.uk/CGP/

Fanconi Anaemia Mutation Database

http://www.rockefeller.edu/fanconi/mutate/

Retina International- Mutation Database

http://www.retina-international.com/sci-news/database.htm

MPS Gene Mutation Database

http://www.peds.umn.edu/centers/gene/mutation

HCAD (Human Chromosome Aberration Database)

http://www.pdg.cnb.uam.es/UniPub/HCAD

dbSNP

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=snp

Mutation Discovery

http://www.mutationdiscovery.com/md/MD.com/home_page.jsp

Nephrogenic Diabetes Insipidus

http://www.medicine.mcgill.ca/nephros/

Androgen Receptor Gene Mutations

http://www.mcgill.ca/androgendb/

Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database

http://www.macs.hw.ac.uk/hht

Germline p53 Mutations

http://www.lf2.cuni.cz/projects/germline_mut_p53.htm

Collagen Mutation database

http://www.le.ac.uk/genetics/collagen/

Congential Disorder of Glycosylation

http://www.kuleuven.ac.be/med/cdg/

HaemB (factor IX gene mutations)

http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html

Human Intermediate Filament Database

http://www.interfil.org/

Atlas of Genetics and Cytogenetics in Oncology and Haematology

http://www.infobiogen.fr/services/chromcancer/

Human Cytochrome p450 (CYP) Allele Nomenclature Committee

http://www.imm.ki.se/CYPalleles/

Lesch_Nyhan Syndrome

http://www.ibiblio.org/dnam/mainpage.html

IARC TP53 Database

http://www.iarc.fr/p53/

Human Gene Mutation Database (HGMD)

http://www.hgmd.cf.ac.uk/hgmd0.html

Gangliosidoses Database

http://www.hexdb.mcgill.ca/

The Hellenic National Mutation Database

http://www.goldenhelix.org/greek-old/

The Cypriot National Mutation Database

http://www.goldenhelix.org/cypriot

GeneSNPS

http://www.genome.utah.edu/genesnps

GeneImprint

http://www.geneimprint.com/databases/c6/m6p/index.html

GeneCards

http://www.genecards.org/

A database for Human Fibrinogen Variants

http://www.geht.org//pages/database_ang.html

The Genome Database (gdb)

http://www.gdb.org/

Finnish Disease Database

http://www.findis.org/

Congenital Disorder of Glycosylation Pages

http://www.euroglycanet.org/home.html

X-linked juvenile Retinoschisis and Muscular Dystrophy

http://www.dmd.nl/

Dental Defects of the Teeth

http://www.dent.unc.edu/research/defects

The Cooperative Human Linkage Center (CHLC)

http://www.chlc.org/

CEPH Genotype Database

http://www.cephb.fr/cephdb/php/eng/detail.php?s=30265

Ceph-Genethon

http://www.cephb.fr/bio/ceph-genethon-map.html

Genotype prevalence database@CDC

http://www.cdc.gov/genomics/search/aboutGTP.htm

G6PD Mutations

http://www.bioinf.org.uk/g6pd

Blood Group Antigen Database

http://www.bioc.aecom.yu.edu/bgmut/index.htm

GTP Cyclohydrolase I Deficiency- BIOMED/BIODEF database

http://www.bh4.org/

FHC Mutation Database

http://www.angis.org.au/Databases/Heart/heartbreak.html

TPMD Taiwan Polymorphic microsatellite marker database

http://tpmd.nhri.org.tw/php-bin/graphic.php?lang=en

Hypoxanthine Guanine Phosphoribosyl transferase 1 (Lech-Nyhan Syndrome)

http://sunsite.unc.edu/dnam/mainpage.html

SNP effect

http://snpeffect.vib.be/index.php

AD Study Results Database

http://snpassocad1.cgr.ki.se/

JSNP

http://snp.ims.u-tokyo.ac.jp/

The SNP Consortium

http://snp.cshl.org/

Glanzmann Thrombasthenia Database

http://sinaicentral.mssm.edu/intranet/research/glanzmann/search

Singapore Human and Mutation Polymorphism Database

http://shmpd.bii.a-star.edu.sg/

Autoimmnue Lymphoproliferative Syndrome Database (ALSPbase): Database of mutations causing human ALPS

http://research.nhgri.nih.gov/ALPS/

Marshfield Institute

http://research.marshfieldclinic.org/genetics

Database of Genomic Variants

http://projects.tcag.ca/variation/

Seattle SNPs

http://pga.mbt.washington.edu/welcome.html

Adenomatous Polyposis Coli

http://perso.curie.fr/Thierry.Soussi/APC.html

Gene Connection for the Heart

http://pc4.fsm.it:81/cardmoc

Glucocorticoid Receptor Resource Database

http://nrr.georgetown.edu/GRR/mutation/mutation.html

The Mammalian Gene Mutation Database (MGMD)

http://lisntweb.swan.ac.uk/cmgt/index.htm

GeneDis

http://life2.tau.ac.il/GeneDis

LensGDDB

http://ken.mitton.com/ern/lensbase.html

IMGT, the internation ImMunoGeneTics information system R

http://imgt.cines.fr/

Human Genome Diversity Database

http://hpgl.stanford.edu/projects.html

MeCP2 mutations found in Rett patients

http://homepages.ed.ac.uk/skirmis

HGVbase

http://hgvbase.cgb.ki.se/cgi-bin/main.pl?page=index_new1.htm

Deafness gene mutation database

http://hearing.harvard.edu/db/genelist.htm

Database of Human Hemoglobin Variants and Thalassemias

http://globin.cse.psu.edu/hbvar/menu.html

Sarcomere Protein Gene Mutation Database

http://genetics.med.harvard.edu/%7Eseidman/cg3/index.html

HOWDY (Human Organised Whole Genome Database)

http://gdb.jst.go.jp/HOWDY/top_en.pl

The Cancer Genome Anatomy Project (CGAP)

http://gai.nci.nih.gov/html-cgap/validated.html

MRC haemostasis and thrombosis database resource sites

http://europium.csc.mrc.ac.uk/

Connexin Mutation Databases

http://davinci.crg.es/deafness

Human Chromosome 21 cSNP database

http://csnp.unige.ch/

Map-o-mat (Rutgers University)

http://compgen.rutgers.edu/mapomat/

CGAP

http://cgap.nci.nih.gov/

Genetic Location Database (LDB)

http://cedar.genetics.soton.ac.uk/public_html/

Swiss-Prot/TrEMBL Protein Knowledgebase

http://ca.expasy.org/sprot/

IDbases- databases for genes causing immunodeficiency

http://bioinf.uta.fi/IDbases/

Chaperonin (GroES, GroEL)

http://bioc09.uthscsa.edu/~seale/Chap/chap.html

GRaBD (Gross Rearrangement Breakpoint Database)

http://archive.uwcm.ac.uk/uwcm/mg/grabd

Frequency of Inherited Disorders

http://archive.uwcm.ac.uk/uwcm/mg/fidd/index.html

Allele Frequencies in World Populations

http://allelefrequencies.net/

ALFRED

http://alfred.med.yale.edu/alfred/index.asp

ECARUCA (European Cytogeneticists Association Register of Unbalanced Chromosome Abberations)

http://agserver01.azn.nl:8080/ecaruca/ecaruca.jsp

HAEMB (FTP)

ftp://www.ebi.ac.uk/pub/databases/haemb/