Below are some user hints. For resource documentation click here.
Video tutorial sessions 12, 13 and 10 demonstrate some SNP retrievals.
Standard retrievals use Sanger1 (SNPs, 57+ million locations, 17 inbred strains). Sanger2 is used for indels and SVs (see variation type below). For rs numbers and other exact locations all of the major data sets are searched.
Navigation: Retrievals are specified using a step-by-step web interface. For best results proceed forward through the steps to the end where a result is produced. At this point you can click on "Refine your query" if necessary to go around again and make adjustments, or to begin a new query. Try to avoid using your browser's Reload or Back buttons.
Your results will be a viewable HTML list or the result can be downloaded as a CSV or text file. Haplotype strain grouping views and polymorphism matrix views are also available.
Genomic region: Enter gene or marker symbols, GRCm38 chr locations, or rs numbers. Use spaces or returns to separate items. Upper/lower case doesn't matter.
• Gene and marker symbols must use current MGI nomenclature. Find genes
• Recognized symbols include genes, Mit markers, miRNA and QTLs.
• For best results lists of genes should be cleaned using MGI batch query.
• Coordinates may be bp or Mbp and may include embedded commas
• For an exact location use rs number or coordinates e.g. 1:4834655
• For an entire chromosome use e.g. 3:all For entire genome use: all.
(these cannot be used with the 5 largest data sets however)
• Don't mix exact locations (such as rs numbers) with genes or ranges
• See also the SNP retrieval examples page
Y and MT coverage: Most data sets cover chromosomes 1 through X. For Y coverage use CGD-MDA1, JAX-MDA1, or Perlegen2. For MT coverage use Perlegen2 or JAX-MDA1.
Additional flank can be specified and will apply to each genomic region given. For genes, "upstream" is the region adjacent to the 5' end. For other entities such as Mit markers, rs numbers and basepair specifications, "upstream" will refer to the adjacent region with lower basepair coordinates.
Variation effect filter allows locations to be retrieved based on annotated variation status such as coding, UTR, splice, noncoding transcript, intronic, or intergenic. Also useful for significantly paring down results where appropriate.
Variation type: The majority of data in this resource are SNPs. Other types include indels (7.9+ million sites) and structural variants (SVs; 380,000+). The "any/all" setting may be used to get a mixture of variation types in a single retrieval. [More info on indels and SVs]
Query size limitations
Otherwise, limits vary depending on data sets and filtering... and will be indicated when exceeded.
File downloads: any valid retrieval can be downloaded in csv or space-delimited text formats. Here's the field format. Whole chromosome or whole genome retrievals can be downloaded from eligible datasets. For other needs we can prepare a file for you, subject to certain restrictions.
Automated usage is prohibited. All usage of this resource must be by live interactive users via our web page interface. Usage judged to be violating this policy is subject to blockage. Consider file downloads (above) as an alternative.
For info on interpreting these data and caveats, please see the resource documentation.
The URL for our genotype variation resource is http://phenome.jax.org/SNP
Also at JAX