Select Filter Settings for dbSNP data (build 138):

Criteria to filter out variants from SNPCheck results can be configured below. NGRL Manchester make no attempt to draw conclusions on dbSNP variants. The filter criteria are evaluated against dbSNP annotations, which may occasionally be incorrect.

Quick selection:

Clear All Default

Filter out variants not validated by any of:

cluster frequency submitter double hit HapMap 1000 Genomes

Filter out variants of any of the classes:

SNP		deletion/insertion		heterozygous		microsatellite
Named variation e.g. (Alu)		No Variation		Mixed		Multi-base polymorphism

Filter out variants longer than bps
Filter out variants submitted by LSDB only
Filter out variants with fewer than submissions in dbSNP
Filter out variants where submitted alleles do not agree

The 1000 genome project is an international collaboration that aims to understand common variation in the human genome. When completed, the 1KG project aims to have defined a well-characterised dataset of common and rare variants with a frequency of at least 1%. Here we have integrated phase 1 version 3 release. Sequenced individuals have been grouped into populations based on their shared ancestry and include African, Asian, American and European. Variant MAFs can vary between populations and therefore ancestry can be an important consideration in primer design. More details on the project and populations used can be found here: http://www.1000genomes.org/about.

The exome sequencing project (ESP) was established to discover novel genes contributing to heart, lung and blood disorders. Whereas individuals sequenced in other normal variation datasets are 'assumed healthy', ESP individuals, taken from European American and African American populations, are known to have certain heart, lung and blood diseases. When assessing ESP variants found in primers, it is worth bearing in mind the potential phenotypes of the patients as well as the populations in which these variants are found. Here we have integrated ESP 6500 release. More details of project can be found here: http://evs.gs.washington.edu/EVS/.