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Introduction to NCBI Bioinformatics Resources: ClinVar

A concise introduction to the various bioinformatic data available from NCBI.

ClinVar

NCBI ClinVar

 

ClinVar aggregates information about genomic variation and its relationship to human health. (from NCBI website)

This resource can be accessed at http://www.ncbi.nlm.nih.gov/clinvar

NCBI has an Introduction to this resource at http://www.ncbi.nlm.nih.gov/clinvar/intro/

This example will step through looking for the same LRC variation that we looked at in the dbSNP guide - rs121908936.

Search for LCT and rs121908936:

 

Which returns more information on this allele: