Bioinformatics, Genetics and Computational Biology

Also includes small-scale variations such as insertions/deletions, microsatellites, and non-polymorphic variants. Usually <50 bps in length.

Information about the relationship between sequence variations and human health

Database of genomic structural variation (inversions, balanced translocations, genomic imbalances (in/dels), copy number variants). Usually >50bps in length.

DNA and clinical data on the human MHC

DNA sequences and typing reagents for the human LRC, including killer cell immunoglobulin-like receptors (KIR) and leukocyte Ig-like receptor (LILR)

The International HapMap Project is a 6 country effort to identify and catalog genetic variation in human beings. This data is now static.

General access page to NCBI's variation resources.

The Human Genome Variation Society (HGVS) provides a standardized nomenclature for referring to genetic variations. It is used by the NCBI and many other organizations.

View, search, and navigate variations in genomic context, including data from dbSNP, dbVar and ClinVar and user-uploaded data.

Merges NHGRI genome-wide association study (GWAS) catalog data with several databases housed at the National Center for Biotechnology Information (NCBI), including Gene, dbGaP, OMIM, GTEx and dbSNP.

Visualize variations on sequence maps

Multiple software tool sets for comprehensive gene annotation, expression data analysis, biological pathway mapping, and other functional genomics tasks.