Here are some online knowledge bases that may be useful.

General resources

Public Health Genomics Knowledge Base (v1.0)

https://phgkb.cdc.gov/GAPPKB/phgHome.do?action=about

Genotype/Phenotype

Phenopedia

Enter phenotype and identify genetic/genomic relationships

https://phgkb.cdc.gov/HuGENavigator/startPagePhenoPedia.do

Genopedia

Enter a gene name to get references about phenotypes

https://phgkb.cdc.gov/HuGENavigator/startPagePedia.do

Variants

Characterization of variants

http://www.ncbi.nlm.nih.gov/clinvar/

Genetic Tests

Genetic Test Registry

http://www.ncbi.nlm.nih.gov/gtr/

 

 

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