This track contains information about a subset of the single nucleotide polymorphisms and small insertions and deletions (indels) — collectively Simple Nucleotide Polymorphisms — from dbSNP build 132, available from ftp.ncbi.nih.gov/snp. Only SNPs flagged as clinically associated by dbSNP, mapped to a single location in the reference genome assembly, and not known to have a minor allele frequency of at least 1%, are included in this subset. Frequency data are not available for all SNPs, so this subset probably includes some SNPs whose true minor allele frequency is 1% or greater.
The significance of any particular variant in this track should be interpreted only by a trained medical geneticist using all available information. For example, some variants are included in this track because of their inclusion in a Locus-Specific Database (LSDB) or mention in OMIM, but are not thought to be disease-causing, so inclusion of a variant in this track is not necessarily an indicator of risk. Again, all available information must be carefully considered by a qualified professional.